. . . . . . . "[We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G > A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene) in hereditary multiple exostoses]. 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 . "2017-10-17T13:12:33+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .