. . . . . . . "[We detected a homozygous missense mutation (c.4189T>G, p.F1397V) in the lysosomal trafficking regulator (LYST) gene, which is described as the causative gene for Ch\uFFFDdiak-Higashi syndrome (CHS).]. 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 . "2017-10-17T13:11:34+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .