[Heterozygous deletion of the 5'part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies spinocerebellar ataxia 15 in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE