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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Article
Sarrera elektronikoa: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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