. . . . . . . "[A single nucleotide transversion (G-->C) in the 5' donor site of intron 7 of the beta-hexosaminidase alpha-chain gene was identified in two Portuguese patients with infantile Tay-Sachs disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:12:40+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .