[ { "title": "A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.", "journal": "Genomics", "date": "1996-01-01", "authors": "Auburger G, Ratzlaff T, Lunkes A, Nelles H W, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte O W, Voit T", "reference": { "type": "PubMed", "id": "8808284", "url": "https://pubmed.ncbi.nlm.nih.gov/8808284" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11166-1", "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11166", "url": "https://www.uniprot.org/uniprotkb/P11166" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { 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