. . . . . . . . . . . . "[However, a frameshift mutation in TCF4 was identified in a patient with a clinical diagnosis of 'variant' RTT, in whom the clinical evolution later raised the possibility of Pitt-Hopkins syndrome.]. 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 . "2015-08-25T14:44:57+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .