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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Библиографические подробности
Опубликовано в: :Hum Mutat
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2020
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Article
Online-ссылка: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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