. . . . . . . "[The difficulty in the diagnosis of PDHC deficiency is evident: (1) enzyme activity can be normal depending on the X-inactivation; (2) large deletions can be missed by routine genetic analysis; and (3) only quantification of the PDHA1 gene content revealed the mutation in our patient.]. 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 . "2017-10-17T13:15:15+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .