. . . . . . . "[The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C?T (p.R364W) mutation in the mitofusin 2 (MFN2) gene.]. 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 . "2017-10-17T13:17:50+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .