Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,URL,URL(DOI) Peter D. Stenson and Matthew Mort and Edward V. Ball and Molly Chapman and Katy Evans and Luisa Azevedo and Matthew Hayden and Sally Heywood and David S. Millar and Andrew D. Phillips and David N. Cooper,The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting,Human Genetics,0340-6717,Springer Science and Business Media LLC,2020-06-28,139,10,1197-1207,https://cir.nii.ac.jp/crid/1360294645287997440,https://doi.org/10.1007/s00439-020-02199-3