
Full Length ArticleAssessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses
Keywords: HME; hereditary multiple exostoses; MO; multiple osteochondromas; EXT1; exostosin glycosyltransferase 1; EXT2; exostosin glycosyltransferase 2; ExAC; Exome Aggregation Consortium; MOdb; Multiple Osteochondromas database; LoF; loss of function; pLI; probab