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system and its use to predict the function of intracellular proteins encoded within the human MHC class III region.", "journal": "Genomics", "date": "2004", "authors": "Lehner Ben, Semple Jennifer I, Brown Stephanie E, Counsell Damian, Campbell R Duncan, Sanderson Christopher M", "reference": { "type": "PubMed", "id": "14667819", "url": "https://pubmed.ncbi.nlm.nih.gov/14667819" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13838-1", "protein_name": "Spliceosome RNA helicase DDX39B", "gene_name": "DDX39B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48634-1", "protein_name": "Protein PRRC2A", "gene_name": "PRRC2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00148-1", "protein_name": "ATP-dependent RNA helicase DDX39A", "gene_name": "DDX39A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13838", "url": "https://www.uniprot.org/uniprotkb/Q13838" } ], 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"Structure", "date": "2004", "authors": "Zhao Rui, Shen Jingping, Green Michael R, MacMorris Margaret, Blumenthal Thomas", "reference": { "type": "PubMed", "id": "15296731", "url": "https://pubmed.ncbi.nlm.nih.gov/15296731" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13838-1", "protein_name": "Spliceosome RNA helicase DDX39B", "gene_name": "DDX39B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13838", "url": "https://www.uniprot.org/uniprotkb/Q13838" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15296731", "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", 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Cell. 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Small Aeron M, Chen Hao Yu, Clift Cassandra L, Asano Takaharu, Kuraoka Shiori, Blaser Mark C, Perez Katelyn A, Natarajan Pradeep, Yeang Calvin, Stroes Erik S G, Tsimikas Sotirios, Engert James C, Thanassoulis George, O'Donnell Christopher J, Aikawa Masanori, Singh Sasha A, Aikawa Elena", "reference": { "type": "PubMed", "id": "37937463", "url": "https://pubmed.ncbi.nlm.nih.gov/37937463" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6N075-1", "protein_name": "Solute carrier family 61 member 1", "gene_name": "SLC61A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N075", "url": "https://www.uniprot.org/uniprotkb/Q6N075" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37937463", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.", "journal": "Neurogenetics", "date": "2006", "authors": "Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM", "reference": { "type": "PubMed", "id": "16570191", "url": "https://pubmed.ncbi.nlm.nih.gov/16570191" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBY8-1", "protein_name": "Protein CLN8", "gene_name": "CLN8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBY8", "url": "https://www.uniprot.org/uniprotkb/Q9UBY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16570191", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.", "journal": "Brain & development", "date": "2016", "authors": "Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, Kobayashi T, Hino-Fukuyo N, Saitsu H, Kure S", "reference": { "type": "PubMed", "id": "26443629", "url": "https://pubmed.ncbi.nlm.nih.gov/26443629" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UBY8-1", "protein_name": "Protein CLN8", "gene_name": "CLN8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UBY8", "url": "https://www.uniprot.org/uniprotkb/Q9UBY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26443629", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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journal of the National Kidney Foundation", "date": "1999", "authors": "Inoue Y, Nishio H, Shirakawa T, Nakanishi K, Nakamura H, Sumino K, Nishiyama K, Iijima K, Yoshikawa N", "reference": { "type": "PubMed", "id": "10561141", "url": "https://pubmed.ncbi.nlm.nih.gov/10561141" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29400", "url": "https://www.uniprot.org/uniprotkb/P29400" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10561141", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.", "journal": "Human molecular genetics", "date": "1992", "authors": "Renieri A, Seri M, Myers JC, Pihlajaniemi T, Massella L, Rizzoni G, De Marchi M", "reference": { "type": "PubMed", "id": "1363780", "url": "https://pubmed.ncbi.nlm.nih.gov/1363780" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29400", "url": "https://www.uniprot.org/uniprotkb/P29400" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1363780", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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