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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 |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2020
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| Matèries: | |
| 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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