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hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standard description of DNA, RNA, and protein sequence variants in public variant databases and the scientific literature. Inconsistent application of the HGVS guidelines can lead to misinterpretation of var...

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Detalles Bibliográficos
Autores principales:	Wang, Meng, Callenberg, Keith M., Dalgleish, Raymond, Fedtsov, Alexandre, Fox, Naomi K., Freeman, Peter J., Jacobs, Kevin B., Kaleta, Piotr, McMurry, Andrew J., Prlić, Andreas, Rajaraman, Veena, Hart, Reece K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Informatics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282708/ https://www.ncbi.nlm.nih.gov/pubmed/30129167 http://dx.doi.org/10.1002/humu.23615

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