. . . . . . . . . . . . "[This mutation results in the replacement of Gln 541 (CAA) by a premature stop codon (TAA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:33:59+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .