Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

PURPOSE: We studied the penetrance of pathogenically classified variants in an elderly Dutch population from the Rotterdam Study, for which deep phenotyping is available. We screened the 59 actionable genes for which reporting of known pathogenic variants was recommended by the American College of M...

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Detalles Bibliográficos
Autores principales: van Rooij, Jeroen, Arp, Pascal, Broer, Linda, Verlouw, Joost, van Rooij, Frank, Kraaij, Robert, Uitterlinden, André, Verkerk, Annemieke J. M. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605437/
https://www.ncbi.nlm.nih.gov/pubmed/32665702
http://dx.doi.org/10.1038/s41436-020-0900-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605437/
https://www.ncbi.nlm.nih.gov/pubmed/32665702
http://dx.doi.org/10.1038/s41436-020-0900-8

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