著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,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