An assessment of the role of loss of function Vinculin (VCL) variants in inherited cardiomyopathy

The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenicity of variants with lower penetrance can be challe...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Hawley, Megan H., Almontashiri, Naif, Biesecker, Leslie G., Berger, Natalie, Chung, Wendy K., Garcia, John, Grebe, Theresa A., Kelly, Melissa A., Lebo, Matthew S., Macaya, Daniela, Mei, Hui, Platt, Julia, Richard, Gabi, Ryan, Ashley, Thomson, Kate L., Vatta, Matteo, Walsh, Roddy, Ware, James S., Wheeler, Matthew, Zouk, Hana, Mason-Suares, Heather, Funke, Birgit
Format: Artigo
Jezik:Inglês
Izdano: 2020
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7714388/
https://ncbi.nlm.nih.gov/pubmed/32516855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24061
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