ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

PURPOSE: Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (CDWG) are systematically reviewing disease-associated genes for sufficient evidence to support disease causality and creating...

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Publicado en:Genet Med
Autores principales: Gelb, Bruce D., Cavé, Hélène, Dillon, Mitchell W., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Williams, Bradley, Zenker, Martin, Vincent, Lisa M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6119537/
https://ncbi.nlm.nih.gov/pubmed/29493581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2018.3
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