. . . . . . . "[Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:16:20+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .