Stepwise ABC system for classification of any type of genetic variant

The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) system for variant classification is score based with five classes: benign, likely benign, variant of unknown significance (VUS), likely pathogenic, and pathogenic. Here, we present a variant...

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Detalles Bibliográficos
Autores principales: Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821602/
https://www.ncbi.nlm.nih.gov/pubmed/33981013
http://dx.doi.org/10.1038/s41431-021-00903-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821602/
https://www.ncbi.nlm.nih.gov/pubmed/33981013
http://dx.doi.org/10.1038/s41431-021-00903-z

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