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Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era
BACKGROUND: Human exome sequencing is a recently developed tool to aid in the discovery of novel coding variants. Now broadly applied, exome sequencing datasets provide a novel opportunity to evaluate the allele frequencies of previously published pathogenic rare variants. METHODS AND RESULTS: We ex...
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| Asıl Yazarlar: | , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2012
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3332064/ https://ncbi.nlm.nih.gov/pubmed/22337857 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.111.961805 |
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