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], "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": "Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism.", "journal": "Annals of human genetics", "date": "1995", "authors": "Yasuda T, Kishi K, Yanagawa Y, Yoshida A", "reference": { "type": "PubMed", "id": "7762978", "url": "https://pubmed.ncbi.nlm.nih.gov/7762978" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P24855-1", "protein_name": "Deoxyribonuclease-1", "gene_name": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.", "journal": "Brain : a journal of neurology", "date": "1999", "authors": "Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG", "reference": { "type": "PubMed", "id": "10355668", "url": "https://pubmed.ncbi.nlm.nih.gov/10355668" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q09470-1", "protein_name": "Potassium voltage-gated channel subfamily A member 1", "gene_name": "KCNA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q09470", "url": "https://www.uniprot.org/uniprotkb/Q09470" } ], "common_name": "Human", 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"date": "2000", "authors": "Knight MA, Storey E, McKinlay Gardner RJ, Hand P, Forrest SM", "reference": { "type": "PubMed", "id": "11013453", "url": "https://pubmed.ncbi.nlm.nih.gov/11013453" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q09470-1", "protein_name": "Potassium voltage-gated channel subfamily A member 1", "gene_name": "KCNA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q09470", "url": "https://www.uniprot.org/uniprotkb/Q09470" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11013453", "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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JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M", "reference": { "type": "PubMed", "id": "28132689", "url": "https://pubmed.ncbi.nlm.nih.gov/28132689" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKB3-1", "protein_name": "DnaJ homolog subfamily C member 12", "gene_name": "DNAJC12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKB3", "url": "https://www.uniprot.org/uniprotkb/Q9UKB3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28132689", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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Alkhalifi Salwa M, Lunsing Roelineke J, Heiner-Fokkema Rebecca M, Rassi Anahita, Gemperle-Britschgi Corinne, Hoffmann Georg F, Blau Nenad, Th\u00f6ny Beat", "reference": { "type": "PubMed", "id": "28794131", "url": "https://pubmed.ncbi.nlm.nih.gov/28794131" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKB3-1", "protein_name": "DnaJ homolog subfamily C member 12", "gene_name": "DNAJC12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKB3", "url": "https://www.uniprot.org/uniprotkb/Q9UKB3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28794131", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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J. Hum. Genet.", "date": "2018", "authors": "Veenma D, Cordeiro D, Sondheimer N, Mercimek-Andrews S", "reference": { "type": "PubMed", "id": "30139987", "url": "https://pubmed.ncbi.nlm.nih.gov/30139987" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKB3-1", "protein_name": "DnaJ homolog subfamily C member 12", "gene_name": "DNAJC12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKB3", "url": "https://www.uniprot.org/uniprotkb/Q9UKB3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30139987", "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": "Identification of an inherited pathogenic DNAJC12 variant in a patient with hyperphenylalalinemia.", "journal": "Clin. Chim. Acta", "date": "2019", "authors": "Feng Yi, Liu Sichi, Tang Chengfang, Jiang Xiang, Tang Fang, Li Bei, Jia Xuefang, Chen Qianyu, Liu Jilian, Huang Yonglan", "reference": { "type": "PubMed", "id": "30179615", "url": "https://pubmed.ncbi.nlm.nih.gov/30179615" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKB3-1", "protein_name": "DnaJ homolog subfamily C member 12", "gene_name": "DNAJC12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKB3", "url": "https://www.uniprot.org/uniprotkb/Q9UKB3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30179615", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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