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

The Human Gene Mutation Database (HGMD(®)) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 diff...

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Publicat a:Hum Genet
Autors principals: Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D., Cooper, David N.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7497289/
https://ncbi.nlm.nih.gov/pubmed/32596782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02199-3
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