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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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| Gepubliceerd in: | Hum Mutat |
|---|---|
| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
John Wiley and Sons Inc.
2017
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| Onderwerpen: | |
| Online toegang: | 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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