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severe combined immunodeficiency.", "journal": "Nat. Genet.", "date": "1998", "authors": "Puel A, Ziegler SF, Buckley RH, Leonard WJ", "reference": { "type": "PubMed", "id": "9843216", "url": "https://pubmed.ncbi.nlm.nih.gov/9843216" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P16871-1", "protein_name": "Interleukin-7 receptor subunit alpha", "gene_name": "IL7R", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P16871", "url": "https://www.uniprot.org/uniprotkb/P16871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9843216", "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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"journal": "American journal of human genetics", "date": "2010", "authors": "Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW", "reference": { "type": "PubMed", "id": "20493458", "url": "https://pubmed.ncbi.nlm.nih.gov/20493458" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HBG6-1", "protein_name": "Intraflagellar transport protein 122 homolog", "gene_name": "IFT122", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6NYH1-1", "protein_name": "Intraflagellar transport protein 122 homolog", "gene_name": "ift122", "tax_name": "Zebrafish" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBG6", "url": "https://www.uniprot.org/uniprotkb/Q9HBG6" } ], "common_name": "Human", "glygen_name": "Human", 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"authors": "Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh RK, Nakashima M, Saitsu H, Miyake N, Saito S, Matsumoto N", "reference": { "type": "PubMed", "id": "23826986", "url": "https://pubmed.ncbi.nlm.nih.gov/23826986" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HBG6-1", "protein_name": "Intraflagellar transport protein 122 homolog", "gene_name": "IFT122", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBG6", "url": "https://www.uniprot.org/uniprotkb/Q9HBG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23826986", "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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Biochem.", "date": "2019", "authors": "Takahara M, Kunii M, Nakamura K, Harada A, Hirano T, Katoh Y, Nakayama K", "reference": { "type": "PubMed", "id": "30476139", "url": "https://pubmed.ncbi.nlm.nih.gov/30476139" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HBG6-1", "protein_name": "Intraflagellar transport protein 122 homolog", "gene_name": "IFT122", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9CQI4-1", "protein_name": "Intraflagellar transport-associated protein", "gene_name": "Iftap", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q6NWV3-1", "protein_name": "Intraflagellar transport protein 122 homolog", "gene_name": "Ift122", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q86VG3-1", "protein_name": "Intraflagellar transport-associated protein", "gene_name": "IFTAP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBG6", "url": 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mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.", "journal": "Human genetics", "date": "2016", "authors": "Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG", "reference": { "type": "PubMed", "id": "27245168", "url": "https://pubmed.ncbi.nlm.nih.gov/27245168" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60303-1", "protein_name": "Katanin-interacting protein", "gene_name": "KATNIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprotkb/O60303" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27245168", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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sequence of an accessory factor required for activation of the human interferon gamma receptor.", "journal": "Cell", "date": "1994", "authors": "Soh J, Donnelly RJ, Kotenko S, Mariano TM, Cook JR, Wang N, Emanuel S, Schwartz B, Miki T, Pestka S", "reference": { "type": "PubMed", "id": "8124716", "url": "https://pubmed.ncbi.nlm.nih.gov/8124716" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P38484-1", "protein_name": "Interferon gamma receptor 2", "gene_name": "IFNGR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P38484", "url": "https://www.uniprot.org/uniprotkb/P38484" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8124716", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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Biol. 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Yamamoto H, Fujita T, Furuichi T, Ito K, Inoue K, Yamana K, Zanma A, Takada K, Ito Y, Komori T", "reference": { "type": "PubMed", "id": "15107406", "url": "https://pubmed.ncbi.nlm.nih.gov/15107406" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13951-1", "protein_name": "Core-binding factor subunit beta", "gene_name": "CBFB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14623-1", "protein_name": "Indian hedgehog protein", "gene_name": "IHH", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10070-5", "protein_name": "Transcription activator GLI2", "gene_name": "GLI2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P56524-1", "protein_name": "Histone deacetylase 4", "gene_name": "HDAC4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13951", "url": "https://www.uniprot.org/uniprotkb/Q13951" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": 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Dermatol.", "date": "1999", "authors": "Smith L T, Underwood R A, McLean W H", "reference": { "type": "PubMed", "id": "10233306", "url": "https://pubmed.ncbi.nlm.nih.gov/10233306" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P35908-1", "protein_name": "Keratin, type II cytoskeletal 2 epidermal", "gene_name": "KRT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35908", "url": "https://www.uniprot.org/uniprotkb/P35908" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10233306", "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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syntenin's PDZ2 domain: reassessment of the PDZ recognition paradigm.", "journal": "Structure", "date": "2003", "authors": "Kang Beom Sik, Cooper David R, Devedjiev Yancho, Derewenda Urszula, Derewenda Zygmunt S", "reference": { "type": "PubMed", "id": "12842047", "url": "https://pubmed.ncbi.nlm.nih.gov/12842047" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01344-1", "protein_name": "Interleukin-5 receptor subunit alpha", "gene_name": "IL5RA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31431-1", "protein_name": "Syndecan-4", "gene_name": "SDC4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00560-1", "protein_name": "Syntenin-1", "gene_name": "SDCBP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01344", "url": "https://www.uniprot.org/uniprotkb/Q01344" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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America", "date": "1992-08-01", "authors": "Tavernier J, Tuypens T, Plaetinck G, Verhee A, Fiers W, Devos R", "reference": { "type": "PubMed", "id": "1495999", "url": "https://pubmed.ncbi.nlm.nih.gov/1495999" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01344-1", "protein_name": "Interleukin-5 receptor subunit alpha", "gene_name": "IL5RA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05113-1", "protein_name": "Interleukin-5", "gene_name": "IL5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P32927-1", "protein_name": "Cytokine receptor common subunit beta", "gene_name": "CSF2RB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01344", "url": "https://www.uniprot.org/uniprotkb/Q01344" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1495999", "abstract": "", "glycosylation": [], 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Med.", "date": "1992", "authors": "Murata Y, Takaki S, Migita M, Kikuchi Y, Tominaga A, Takatsu K", "reference": { "type": "PubMed", "id": "1732409", "url": "https://pubmed.ncbi.nlm.nih.gov/1732409" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01344-1", "protein_name": "Interleukin-5 receptor subunit alpha", "gene_name": "IL5RA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q01344", "url": "https://www.uniprot.org/uniprotkb/Q01344" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1732409", "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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