. . . . . . . . . . . . "[We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-21"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-08-25T14:37:46+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .