. . . . . . . . . . . . "[The identification of a novel frameshift variant of PTEN in a patient with extreme macrocephaly, autism, intellectual disability and seizures, confirms this gene as a major candidate in the ASD-macrocephaly endophenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:50:31+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .