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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions
The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence variants in scientific publications, clinical reports, and databases. However, the HGVS recommendations are complex and this often results in inaccurate variant descriptions being reported. The open‐so...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5765404/ https://ncbi.nlm.nih.gov/pubmed/28967166 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23348 |
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