. . . . . . . "[We screened nine patients with ML/LEOPARD syndrome (including a mother-daughter pair) and two children with NS who had multiple caf� au lait spots, for mutations in the NS gene, PTPN11, and found, in 10 of 11 patients, one of two new missense mutations, in exon 7 or exon 12.]. 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 . "2017-10-17T13:15:50+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .