. . . . . . . "[analysis of a Chinese family with autosomal dominant achondroplasia; disease locus was mapped to chromosome 4p16.3, where the FGFR3 gene is located; a novel Ser217Cys mutation in exon 5 of FGFR3 that causes autosomal dominant achondroplasia was identified]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:12:42+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .