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Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study

BACKGROUND -: The hypothesis of the Dilated Cardiomyopathy (DCM) Precision Medicine Study is that most DCM has a genetic basis. The study returns results to probands, and when indicated, to relatives. While both the American College of Medical Genetics and Genomics/Association for Molecular Patholog...

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Detaylı Bibliyografya
Yayımlandı:Circ Genom Precis Med
Asıl Yazarlar: Morales, Ana, Kinnamon, Daniel D., Jordan, Elizabeth, Platt, Julia, Vatta, Matteo, Dorschner, Michael O., Starkey, Carl, Mead, Jonathan, Ai, Tomohiko, Burke, Wylie, Gastier-Foster, Julie, Jarvik, Gail P., Rehm, Heidi L., Nickerson, Deborah A., Hershberger, Ray E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8070981/
https://ncbi.nlm.nih.gov/pubmed/32160020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.119.002480
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