[Result of DNA sequencing demonstrated that both families with X-linked Charcot-Marie-Tooth disease had a same mutation of 622G-- > A, which resulted in a substitution of Glu208Lys.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE