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associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree.", "journal": "Clinical neurology and neurosurgery", "date": "2022-12", "authors": "Liu Ruihong, Huang Yihuan, Li Chunyi, Wang Ping, Wang Yiming, Zhang Lei", "reference": { "type": "PubMed", "id": "36403339", "url": "https://pubmed.ncbi.nlm.nih.gov/36403339" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14738-1", "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform", "gene_name": "PPP2R5D", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprotkb/Q14738" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36403339", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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Res.", "date": "2000", "authors": "Schubert A, Cattaruzza M, Hecker M, Darmer D, Holtz J, Morawietz H", "reference": { "type": "PubMed", "id": "11110777", "url": "https://pubmed.ncbi.nlm.nih.gov/11110777" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BTW9-1", "protein_name": "Tubulin-specific chaperone D", "gene_name": "TBCD", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BTW9", "url": "https://www.uniprot.org/uniprotkb/Q9BTW9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11110777", "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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Lachlan Katherine, Thomas Simon, Devlin Anita, Wright Michael, Martin Richard, Karwowska Joanna, Posmyk Renata, Chatron Nicolas, Stark Zornitza, Heath Oliver, Delatycki Martin, Buchert Rebecca, Korenke Georg-Christoph, Ramsey Keri, Narayanan Vinodh, Grange Dorothy K, Weisenberg Judith L, Haack Tobias B, Karch Stephanie, Kipkemoi Patricia, Mangi Moses, Bindels de Heus Karen G C B, de Wit Marie-Claire Y, Barakat Tahsin Stefan, Lim Derek, Van Winckel G\u00e9raldine, Spillmann Rebecca C, Shashi Vandana, Jacob Maureen, Stehr Antonia M, , Krawitz Peter, Douzgos Houge Gunnar, Janssens Veerle", "reference": { "type": "PubMed", "id": "39978342", "url": "https://pubmed.ncbi.nlm.nih.gov/39978342" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13362-1", "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform", "gene_name": "PPP2R5C", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": 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"Hook2 contributes to aggresome formation.", "journal": "BMC cell biology", "date": "2007", "authors": "Szebenyi G, Wigley WC, Hall B, Didier A, Yu M, Thomas P, Kramer H", "reference": { "type": "PubMed", "id": "17540036", "url": "https://pubmed.ncbi.nlm.nih.gov/17540036" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96ED9-1", "protein_name": "Protein Hook homolog 2", "gene_name": "HOOK2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96ED9", "url": "https://www.uniprot.org/uniprotkb/Q96ED9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17540036", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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