. . . . . . . "[The patient presented here was clinically diagnosed with RTT at the age of 66 years and now the presence of one of the common missense mutations in MECP2 has been demonstrated.]. 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 . "2017-10-17T13:14:30+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .