. . . . . . . "[He was found to have a novel heterozygous missense variant (c.305A?>?G; p.E102G) in MAP2K1, a gene mostly causal for cardio-facio-cutaneous syndrome (CFCS).]. 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 . "2017-10-17T13:15:39+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .