. . . . . . . . . . . . "[We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-27"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2015-08-25T14:47:41+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .