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J. Hum. Genet.", "date": "1991", "authors": "Morrison K E, Mariyama M, Yang-Feng T L, Reeders S T", "reference": { "type": "PubMed", "id": "1882840", "url": "https://pubmed.ncbi.nlm.nih.gov/1882840" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01955", "url": "https://www.uniprot.org/uniprotkb/Q01955" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1882840", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.", "journal": "Clin. Genet.", "date": "2014", "authors": "Webb B D, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman M D, Diaz G A, Kornreich R, Trachtman H, Mehta L, Edelmann L", "reference": { "type": "PubMed", "id": "23927549", "url": "https://pubmed.ncbi.nlm.nih.gov/23927549" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01955", "url": "https://www.uniprot.org/uniprotkb/Q01955" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23927549", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"evidence": [ { "database": "UniProtKB", "id": "Q01955", "url": "https://www.uniprot.org/uniprotkb/Q01955" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29946535", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 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"Characterization and expression of multiple alternatively spliced transcripts of the Goodpasture antigen gene region. Goodpasture antibodies recognize recombinant proteins representing the autoantigen and one of its alternative forms.", "journal": "Eur. J. Biochem.", "date": "1995", "authors": "Penades JR, Bernal D, Revert F, Johansson C, Fresquet VJ, Cervera J, Wieslander J, Quinones S, Saus J", "reference": { "type": "PubMed", "id": "7758473", "url": "https://pubmed.ncbi.nlm.nih.gov/7758473" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01955", "url": "https://www.uniprot.org/uniprotkb/Q01955" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7758473", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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Genet.", "date": "1994", "authors": "Lemmink HH, Mochizuki T, van den Heuvel LP, Schroder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ", "reference": { "type": "PubMed", "id": "7987301", "url": "https://pubmed.ncbi.nlm.nih.gov/7987301" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01955", "url": "https://www.uniprot.org/uniprotkb/Q01955" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7987301", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Alternative splicing of the NC1 domain of the human alpha 3(IV) collagen gene. 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.", "journal": "JAMA ophthalmology", "date": "2017-02-01", "authors": "Hull Sarah, Attanasio Marcella, Arno Gavin, Carss Keren, Robson Anthony G, Thompson Dorothy A, Plagnol Vincent, Michaelides Michel, Holder Graham E, Henderson Robert H, Raymond F Lucy, Moore Anthony T, Webster Andrew R", "reference": { "type": "PubMed", "id": "28056120", "url": "https://pubmed.ncbi.nlm.nih.gov/28056120" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14028-1", "protein_name": "Cyclic nucleotide-gated channel beta-1", "gene_name": "CNGB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14028", "url": "https://www.uniprot.org/uniprotkb/Q14028" } ], "common_name": 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"date": "2018", "authors": "Charbel Issa P, Reuter P, Kuhlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T", "reference": { "type": "PubMed", "id": "29800053", "url": "https://pubmed.ncbi.nlm.nih.gov/29800053" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14028-1", "protein_name": "Cyclic nucleotide-gated channel beta-1", "gene_name": "CNGB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14028", "url": "https://www.uniprot.org/uniprotkb/Q14028" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29800053", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 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[] } ] }, { "title": "Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.", "journal": "Molecular therapy : the journal of the American Society of Gene Therapy", "date": "2023-07-05", "authors": "Occelli Laurence M, Zobel Lena, Stoddard Jonathan, Wagner Johanna, Pasmanter Nathaniel, Querubin Janice, Renner Lauren M, Reynaga Rene, Winkler Paige A, Sun Kelian, Marinho Luis Felipe L P, O'Riordan Catherine R, Frederick Amy, Lauer Andreas, Tsang Stephen H, Hauswirth William W, McGill Trevor J, Neuringer Martha, Michalakis Stylianos, Petersen-Jones Simon M", "reference": { "type": "PubMed", "id": "37056049", "url": "https://pubmed.ncbi.nlm.nih.gov/37056049" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14028-1", "protein_name": "Cyclic nucleotide-gated channel beta-1", "gene_name": "CNGB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": 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"glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2001", "authors": "Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y", "reference": { "type": "PubMed", "id": "11162647", "url": "https://pubmed.ncbi.nlm.nih.gov/11162647" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96KA5-1", "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "CLPTM1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96KA5", "url": "https://www.uniprot.org/uniprotkb/Q96KA5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11162647", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96KA5", "url": "https://www.uniprot.org/uniprotkb/Q96KA5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18978787", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": 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"count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Lung cancer susceptibility locus at 5p15.33.", "journal": "Nature genetics", "date": "2008", "authors": "McKay JD, Hung RJ, Gaborieau V, Boffetta P, Chabrier A, Byrnes G, Zaridze D, Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, McLaughlin J, Shepherd F, Montpetit A, Narod S, Krokan HE, Skorpen F, Elvestad MB, Vatten L, Njolstad I, Axelsson T, Chen C, Goodman G, Barnett M, Loomis MM, Lubinski J, Matyjasik J, Lener M, Oszutowska D, Field J, Liloglou T, Xinarianos G, Cassidy A, Vineis P, Clavel-Chapelon F, Palli D, Tumino R, Krogh V, Panico S, Gonzalez CA, Ramon Quiros J, Martinez C, Navarro C, Ardanaz E, Larranaga N, Kham KT, Key T, Bueno-de-Mesquita HB, Peeters PH, Trichopoulou A, Linseisen J, Boeing H, Hallmans G, Overvad K, Tjonneland A, Kumle M, Riboli E, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Matsuda F, Blanche H, Gut I, Heath S, Lathrop M, Brennan P", "reference": { "type": "PubMed", "id": "18978790", "url": "https://pubmed.ncbi.nlm.nih.gov/18978790" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96KA5-1", "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "CLPTM1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96KA5", "url": "https://www.uniprot.org/uniprotkb/Q96KA5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18978790", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], 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}, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.", "journal": "Nature genetics", "date": "2009", "authors": "Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A, Jakobsdottir M, Helgadottir H, Thorlacius S, Aben KK, Blondal T, Thorgeirsson TE, Thorleifsson G, Kristjansson K, Thorisdottir K, Ragnarsson R, Sigurgeirsson B, Skuladottir H, Gudbjartsson T, Isaksson HJ, Einarsson GV, Benediktsdottir KR, Agnarsson BA, Olafsson K, Salvarsdottir A, Bjarnason H, Asgeirsdottir M, Kristinsson KT, Matthiasdottir S, Sveinsdottir SG, Polidoro S, Hoiom V, Botella-Estrada R, Hemminki K, Rudnai P, Bishop DT, Campagna M, Kellen E, Zeegers MP, de Verdier P, Ferrer A, Isla D, Vidal MJ, Andres R, Saez B, Juberias P, Banzo J, Navarrete S, Tres A, Kan D, Lindblom A, Gurzau E, Koppova K, de Vegt F, Schalken JA, van der Heijden HF, Smit HJ, Termeer RA, Oosterwijk E, van Hooij O, Nagore E, Porru S, Steineck G, Hansson J, Buntinx F, Catalona WJ, Matullo G, Vineis P, Kiltie AE, Mayordomo JI, Kumar R, Kiemeney LA, Frigge ML, Jonsson T, Saemundsson H, Barkardottir RB, Jonsson E, Jonsson S, Olafsson JH, Gulcher JR, Masson G, Gudbjartsson DF, Kong A, Thorsteinsdottir U, Stefansson K", "reference": { "type": "PubMed", "id": "19151717", "url": "https://pubmed.ncbi.nlm.nih.gov/19151717" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96KA5-1", "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "CLPTM1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96KA5", "url": 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Oncology", "date": "2021", "authors": "Bowden SJ, Bodinier B, Kalliala I, Zuber V, Vuckovic D, Doulgeraki T, Whitaker MD, Wielscher M, Cartwright R, Tsilidis KK, Bennett P, Jarvelin MR, Flanagan JM, Chadeau-Hyam M, Kyrgiou M", "reference": { "type": "PubMed", "id": "33794208", "url": "https://pubmed.ncbi.nlm.nih.gov/33794208" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96KA5-1", "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "CLPTM1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96KA5", "url": "https://www.uniprot.org/uniprotkb/Q96KA5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33794208", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ", "reference": { "type": "PubMed", "id": "21944779", "url": "https://pubmed.ncbi.nlm.nih.gov/21944779" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96LT7-1", "protein_name": "Guanine nucleotide exchange factor C9orf72", "gene_name": "C9orf72", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96LT7", "url": "https://www.uniprot.org/uniprotkb/Q96LT7" } ], "common_name": "Human", "glygen_name": 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Mutat.", "date": "2013", "authors": "Garc\u00eda-Redondo Alberto, Dols-Icardo Oriol, Rojas-Garc\u00eda Ricard, Esteban-P\u00e9rez Jes\u00fas, Cordero-V\u00e1zquez Pilar, Mu\u00f1oz-Blanco Jos\u00e9 Luis, Catalina Irene, Gonz\u00e1lez-Mu\u00f1oz Miguel, Varona Luis, Sarasola Esther, Povedano Monica, Sevilla Teresa, Guerrero Antonio, Pardo Julio, L\u00f3pez de Munain Adolfo, M\u00e1rquez-Infante Celedonio, de Rivera Francisco Javier Rodr\u00edguez, Pastor Pau, Jeric\u00f3 Ivonne, de Arcaya Amaya \u00c1lvarez, Mora Jes\u00fas S, Clarim\u00f3n Jordi, , Gonzalo-Mart\u00ednez Juan Francisco, Ju\u00e1rez-Rufi\u00e1n Alexandra, Atencia Gabriela, Jim\u00e9nez-Bautista Rosario, Mor\u00e1n Yolanda, Masc\u00edas Javier, Hern\u00e1ndez-Barral Mar\u00eda, Kapetanovic Solange, Garc\u00eda-Barcina Mar\u00eda, Alcal\u00e1 Carmen, Vela Alvaro, Ram\u00edrez-Ramos Concepci\u00f3n, Gal\u00e1n Luc\u00eda, P\u00e9rez-Tur Jordi, Quint\u00e1ns Beatriz, Sobrido M Jes\u00fas, Fern\u00e1ndez-Torr\u00f3n Roberto, Poza Juan Jos\u00e9, Gorostidi Ana, Paradas Carmen, Villoslada Pablo, Larrod\u00e9 Pilar, Capablo Jos\u00e9 Luis, Pascual-Calvet Jordi, Go\u00f1i Miguel, Morgado Yolanda, Guitart Miriam, Moreno-Laguna Sira, Rueda Almudena, Mart\u00edn-Estefan\u00eda Carlos, Cemill\u00e1n Carlos, Blesa Rafael, Lle\u00f3 Alberto", "reference": { "type": "PubMed", "id": "22936364", "url": "https://pubmed.ncbi.nlm.nih.gov/22936364" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96LT7-1", "protein_name": "Guanine nucleotide exchange factor C9orf72", "gene_name": "C9orf72", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96LT7", "url": "https://www.uniprot.org/uniprotkb/Q96LT7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22936364", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": 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Christopher J, Periz Goran, Simko Eric A J, Shaw Patrick G, Kim Min-Sik, Maragakis Nicholas J, Troncoso Juan C, Pandey Akhilesh, Sattler Rita, Rothstein Jeffrey D, Wang Jiou", "reference": { "type": "PubMed", "id": "24598541", "url": "https://pubmed.ncbi.nlm.nih.gov/24598541" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96LT7-1", "protein_name": "Guanine nucleotide exchange factor C9orf72", "gene_name": "C9orf72", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96LT7", "url": "https://www.uniprot.org/uniprotkb/Q96LT7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24598541", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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