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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...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497289/ https://www.ncbi.nlm.nih.gov/pubmed/32596782 http://dx.doi.org/10.1007/s00439-020-02199-3 |