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Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin
BACKGROUND—: Truncating mutations in the giant sarcomeric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy. Detailed studies have amassed a wealth of information about truncating variant position in cases and controls. Nonetheless, considerable confusion exists as...
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| Publicado en: | Circ Cardiovasc Genet |
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| Autor Principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Lippincott Williams & Wilkins
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5068190/ https://ncbi.nlm.nih.gov/pubmed/27625338 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.116.001513 |
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