Mutalyzer 2: next generation HGVS nomenclature checker

MOTIVATION: Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants should be correctly and unambiguously described. W...

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Detalles Bibliográficos
Autores principales: Lefter, Mihai, Vis, Jonathan K, Vermaat, Martijn, den Dunnen, Johan T, Taschner, Peter E M, Laros, Jeroen F J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479679/
https://www.ncbi.nlm.nih.gov/pubmed/33538839
http://dx.doi.org/10.1093/bioinformatics/btab051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479679/
https://www.ncbi.nlm.nih.gov/pubmed/33538839
http://dx.doi.org/10.1093/bioinformatics/btab051

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