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medicine", "date": "2020-11", "authors": "Jin Sheng Chih, Dong Weilai, Kundishora Adam J, Panchagnula Shreyas, Moreno-De-Luca Andres, Furey Charuta G, Allocco August A, Walker Rebecca L, Nelson-Williams Carol, Smith Hannah, Dunbar Ashley, Conine Sierra, Lu Qiongshi, Zeng Xue, Sierant Michael C, Knight James R, Sullivan William, Duy Phan Q, DeSpenza Tyrone, Reeves Benjamin C, Karimy Jason K, Marlier Arnaud, Castaldi Christopher, Tikhonova Irina R, Li Boyang, Pe\u00f1a Helena Perez, Broach James R, Kabachelor Edith M, Ssenyonga Peter, Hehnly Christine, Ge Li, Keren Boris, Timberlake Andrew T, Goto June, Mangano Francesco T, Johnston James M, Butler William E, Warf Benjamin C, Smith Edward R, Schiff Steven J, Limbrick David D, Heuer Gregory, Jackson Eric M, Iskandar Bermans J, Mane Shrikant, Haider Shozeb, Guclu Bulent, Bayri Yasar, Sahin Yener, Duncan Charles C, Apuzzo Michael L J, DiLuna Michael L, Hoffman Ellen J, Sestan Nenad, Ment Laura R, Alper Seth L, Bilguvar Kaya, Geschwind Daniel H, G\u00fcnel Murat, Lifton Richard P, Kahle Kristopher T", "reference": { "type": "PubMed", "id": "33077954", "url": "https://pubmed.ncbi.nlm.nih.gov/33077954" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92922-1", "protein_name": "SWI/SNF complex subunit SMARCC1", "gene_name": "SMARCC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprotkb/Q92922" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33077954", "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", 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Med.", "date": "2003", "authors": "Shattuck Trisha M, V\u00e4lim\u00e4ki Stiina, Obara Takao, Gaz Randall D, Clark Orlo H, Shoback Dolores, Wierman Margaret E, Tojo Katsuyoshi, Robbins Christiane M, Carpten John D, Farnebo Lars-Ove, Larsson Catharina, Arnold Andrew", "reference": { "type": "PubMed", "id": "14585940", "url": "https://pubmed.ncbi.nlm.nih.gov/14585940" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6P1J9-1", "protein_name": "Parafibromin", "gene_name": "CDC73", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P1J9", "url": "https://www.uniprot.org/uniprotkb/Q6P1J9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14585940", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.", "journal": "J. Cell Sci.", "date": "2009", "authors": "Bialas NJ, Inglis PN, Li C, Robinson JF, Parker JD, Healey MP, Davis EE, Inglis CD, Toivonen T, Cottell DC, Blacque OE, Quarmby LM, Katsanis N, Leroux MR", "reference": { "type": "PubMed", "id": "19208769", "url": "https://pubmed.ncbi.nlm.nih.gov/19208769" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BPU9-1", "protein_name": "B9 domain-containing protein 2", "gene_name": "B9D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UPM9-1", "protein_name": "B9 domain-containing protein 1", "gene_name": "B9D1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NXB0-1", "protein_name": "Tectonic-like complex member MKS1", "gene_name": "MKS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BPU9", "url": "https://www.uniprot.org/uniprotkb/Q9BPU9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens 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SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attie-Bitach T, Johnson CA, Garcia-Verdugo JM, Katsanis N, Bergmann C, Reiter JF", "reference": { "type": "PubMed", "id": "21763481", "url": "https://pubmed.ncbi.nlm.nih.gov/21763481" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BPU9-1", "protein_name": "B9 domain-containing protein 2", "gene_name": "B9D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SW45-1", "protein_name": "Tectonic-like complex member MKS1", "gene_name": "Mks1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9R1S0-1", "protein_name": "B9 domain-containing protein 1", "gene_name": "B9d1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q3UK10-1", "protein_name": "B9 domain-containing protein 2", "gene_name": "B9d2", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BPU9", "url": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.", "journal": "World journal of gastroenterology", "date": "2012", "authors": "Deng BC, Lv S, Cui W, Zhao R, Lu X, Wu J, Liu P", "reference": { "type": "PubMed", "id": "23197899", "url": "https://pubmed.ncbi.nlm.nih.gov/23197899" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43520-1", "protein_name": "Phospholipid-transporting ATPase IC", "gene_name": "ATP8B1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43520", "url": "https://www.uniprot.org/uniprotkb/O43520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23197899", "abstract": "", "glycosylation": [], 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