. . . . . . . "[Two novel mutations in the ATM gene were identified in Chinese ataxia telangiectasia patient/first one is a novel, homozygous, Gly449Ala mutation/second one is a compound heterozygous mutation, which consists of a novel, (Gly204Stop) mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:10:46+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .