The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Human genetics, 2020-10, Vol.139 (10), p.1197-1207 [Peer Reviewed Journal]

The Author(s) 2020 ;COPYRIGHT 2020 Springer ;The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-020-02199-3 ;PMID: 32596782

Full text available