[A hemizygous 24-bp duplication in exon 2 (441 _ 464dup) results in expansion from 12 to 20 alanine residues (A155 _ W156insAAAAAAAA) in the second of four polyalanine tracts in the ARX protein, causing West syndrome.]. 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