Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy

PURPOSE: Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined ACMG/AMP criteria for DCM, re-classified all detected variants in robust genes, and associated these results to patients´...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Stroeks, Sophie L.V.M., Hellebrekers, Debby M.E.I., Claes, Godelieve R.F., Tayal, Upasana, Krapels, Ingrid P.C., Vanhoutte, Els K., van den Wijngaard, Arthur, Henkens, Michiel T.H.M., Ware, James S., Heymans, Stephane R.B., Brunner, Han G., Verdonschot, Job A.J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7614766/
https://ncbi.nlm.nih.gov/pubmed/34194005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01255-1
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