[MECP2 gene nucleotide changes affect pathology in males: at c.1282 G > A (G428S) severe encephalopathy, at C.1030 C > T (R344W) a Rett-like phenotype, at c.590 C > T (T197M) (congenital encephalopathy, microcephaly, and severe developmental delay).]. 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