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Yingchu, Yu Yongduo, Tang Jiaxin, Cao Zhifei, Zhang Yongsheng, Li Bingyan, Nie Jing, Hei Tom K, Zhou Guangming", "reference": { "type": "PubMed", "id": "36871154", "url": "https://pubmed.ncbi.nlm.nih.gov/36871154" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BPW8-1", "protein_name": "Protein NipSnap homolog 1", "gene_name": "NIPSNAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BPW8", "url": "https://www.uniprot.org/uniprotkb/Q9BPW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36871154", "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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H, Barton P J", "reference": { "type": "PubMed", "id": "8661099", "url": "https://pubmed.ncbi.nlm.nih.gov/8661099" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P19429-1", "protein_name": "Troponin I, cardiac muscle", "gene_name": "TNNI3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P19429", "url": "https://www.uniprot.org/uniprotkb/P19429" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8661099", "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": 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Med. 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Zheng Zongtai, Wang Keyi, Mao Weipu, Li Xue, Wang Guangchun, Zhang Yuanyuan, Huang Jianhua, Zhang Ning, Wu Pengfei, Liu Ji, Zhang Haimin, Che Jianping, Peng Bo, Zheng Junhua, Li Wei, Yao Xudong", "reference": { "type": "PubMed", "id": "37332045", "url": "https://pubmed.ncbi.nlm.nih.gov/37332045" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKN1-1", "protein_name": "Mucin-12", "gene_name": "MUC12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKN1", "url": "https://www.uniprot.org/uniprotkb/Q9UKN1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37332045", "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": "Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.", "journal": "American journal of human genetics", "date": "2001", "authors": "Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT", "reference": { "type": "PubMed", "id": "11567215", "url": "https://pubmed.ncbi.nlm.nih.gov/11567215" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P61916-1", "protein_name": "NPC intracellular cholesterol transporter 2", "gene_name": "NPC2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61916", "url": "https://www.uniprot.org/uniprotkb/P61916" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11567215", "abstract": "", 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Dev.", "date": "1993", "authors": "Krull N, Ivell R, Osterhoff C, Kirchhoff C", "reference": { "type": "PubMed", "id": "8418812", "url": "https://pubmed.ncbi.nlm.nih.gov/8418812" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P61916-1", "protein_name": "NPC intracellular cholesterol transporter 2", "gene_name": "NPC2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P61916", "url": "https://www.uniprot.org/uniprotkb/P61916" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8418812", "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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