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Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
Clinical genetic testing has exponentially expanded in recent years, leading to an overwhelming amount of patient variants with high variability in pathogenicity and heterogeneous phenotypes. A large part of the variant level data is aggregated in public databases such as ClinVar. However, the abili...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602488/ https://www.ncbi.nlm.nih.gov/pubmed/31114901 http://dx.doi.org/10.1093/nar/gkz411 |