. . . . . . . . . . . . "[Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).]. 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 . "2015-02-21"^^ . "2015-08-25T14:37:43+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .