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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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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | 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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