. . . . . . . "[Direct sequence analysis of TSEN54 showed homozygosity for c.919G>T, the common founder mutation in most PCH2 patients, and both parents were heterozygous for this mutation.]. 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 . "2017-10-17T13:19:13+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .