. . . . . . . "[A novel T-->G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMT1A disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:15:30+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .