PubMed:23630944 / 342-514 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23630944-0#20#28#gene6310","span":{"begin":0,"end":172},"obj":"gene6310"}],"text":"Although the mechanisms linking the mutation to the disease remain unclear, evidence indicates that it involves a combination of both gain and loss of functions of ataxin-1"}