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Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D. and Cooper, David N. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139 , pp. 1197-1207. 10.1007/s00439-020-02199-3
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