. . . . . . . . . . . . "[Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2013-07-24"^^ . "2014-10-02T12:31:59+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .