. . . . . . . . . . . . "[We subsequently identified two de novo heterozygous missense mutations of a conserved amino acid in the basic region of the TCF4 gene in three additional subjects with PHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2013-07-24"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2014-10-02T12:32:13+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .