. . . . . . . "[Neither the TCOF1 mutation nor the well-known variability in the expression in affected families with Treacher Collins syndrome (?40% of reported cases) can explain the severity of these cases; otherwise, we would be aware of such cases within families from time to time.]. 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 . "2017-10-17T13:16:35+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .