. . . . . . . "[Targeted gene sequencing revealed a novel composite heterozygous c.190G>T/c.508C>T mutation in the G6PC gene of the patient, leading to a diagnosis of glycogen storage disease type Ia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:12:52+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .