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[] } ] }, { "title": "A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.", "journal": "PloS one", "date": "2011", "authors": "Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S, Malik M, Yang SY", "reference": { "type": "PubMed", "id": "22132097", "url": "https://pubmed.ncbi.nlm.nih.gov/22132097" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99714-1", "protein_name": "3-hydroxyacyl-CoA dehydrogenase type-2", "gene_name": "HSD17B10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99714", "url": "https://www.uniprot.org/uniprotkb/Q99714" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22132097", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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