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Clin. Endocrinol. Metab.", "date": "1999", "authors": "Prezant T R, Kadioglu P, Melmed S", "reference": { "type": "PubMed", "id": "10084610", "url": "https://pubmed.ncbi.nlm.nih.gov/10084610" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NZH5-1", "protein_name": "Securin-2", "gene_name": "PTTG2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZH5", "url": "https://www.uniprot.org/uniprotkb/Q9NZH5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10084610", "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": [ { 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"field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.", "journal": "BMC neurology", "date": "2021", "authors": "Khalesi R, Razmara E, Asgaritarghi G, Tavasoli AR, Riazalhosseini Y, Auld D, Garshasbi M", "reference": { "type": "PubMed", "id": "33910511", "url": "https://pubmed.ncbi.nlm.nih.gov/33910511" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15042-1", "protein_name": "Rab3 GTPase-activating protein catalytic subunit", "gene_name": "RAB3GAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15042", "url": "https://www.uniprot.org/uniprotkb/Q15042" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33910511", 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Heart failure", "date": "2019", "authors": "Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E", "reference": { "type": "PubMed", "id": "30871351", "url": "https://pubmed.ncbi.nlm.nih.gov/30871351" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T481-1", "protein_name": "RNA-binding protein 20", "gene_name": "RBM20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T481", "url": "https://www.uniprot.org/uniprotkb/Q5T481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30871351", "abstract": "", "glycosylation": [], 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"date": "2021", "authors": "Robles-Mezcua A, Rodriguez-Miranda L, Morcillo-Hidalgo L, Jimenez-Navarro M, Garcia-Pinilla JM", "reference": { "type": "PubMed", "id": "34174465", "url": "https://pubmed.ncbi.nlm.nih.gov/34174465" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T481-1", "protein_name": "RNA-binding protein 20", "gene_name": "RBM20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T481", "url": "https://www.uniprot.org/uniprotkb/Q5T481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34174465", "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" ] 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.", "journal": "JAMA ophthalmology", "date": "2015", "authors": "Yang P, Chiang PW, Weleber RG, Pennesi ME", "reference": { "type": "PubMed", "id": "25789692", "url": "https://pubmed.ncbi.nlm.nih.gov/25789692" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96IS3-1", "protein_name": "Retina and anterior neural fold homeobox protein 2", "gene_name": "RAX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IS3", "url": "https://www.uniprot.org/uniprotkb/Q96IS3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25789692", "abstract": "", "glycosylation": [], 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Karali Marianthi, Corton Marta, Van Schil Kristof, Peelman Frank, Cherry Timothy, Rosseel Toon, Verdin Hannah, Derolez Julien, Van Laethem Thalia, Khan Kamron N, McKibbin Martin, Toomes Carmel, Ali Manir, Torella Annalaura, Testa Francesco, Jimenez Belen, Simonelli Francesca, De Zaeytijd Julie, Van den Ende Jenneke, Leroy Bart P, Coppieters Frauke, Ayuso Carmen, Inglehearn Chris F, Banfi Sandro, De Baere Elfride", "reference": { "type": "PubMed", "id": "30377383", "url": "https://pubmed.ncbi.nlm.nih.gov/30377383" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96IS3-1", "protein_name": "Retina and anterior neural fold homeobox protein 2", "gene_name": "RAX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IS3", "url": "https://www.uniprot.org/uniprotkb/Q96IS3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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Cell. Biol.", "date": "1986", "authors": "Matsushime H, Wang LH, Shibuya M", "reference": { "type": "PubMed", "id": "3023956", "url": "https://pubmed.ncbi.nlm.nih.gov/3023956" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08922-1", "protein_name": "Proto-oncogene tyrosine-protein kinase ROS", "gene_name": "ROS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08941-1", "protein_name": "Proto-oncogene tyrosine-protein kinase ROS", "gene_name": "ROS1", "tax_name": "Chicken" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08922", "url": "https://www.uniprot.org/uniprotkb/P08922" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3023956", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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