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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Publicat a:Hum Mutat
Autors principals: 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
Idioma:Inglês
Publicat: 2020
Matèries:
Article
Accés en línia: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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