| The Human Gene Mutation Database (HGMD) is a comprehensive core collection of published germline mutations in nuclear genes that underlie or are associated with human inherited disease. Search by gene, mutation, disease and more to find lists of published mutations organized by type (missense, splicing, regulatory, etc.) with full citation information for their earliest literature references. This version - HGMD Professional - contains more up-to-date data and features than the public version available at www.hgmd.cf.ac.uk/. |
