. . . . . . . "[a homozygous p.W1327X mutation leads to severe generalized glycogenosis types 3a & 3b within the same family; heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia & fatigue]. 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 . "2017-10-17T13:10:20+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .