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Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency

Titin truncating variants (TTNtvs) are the most common genetic cause of dilated cardiomyopathy (DCM). Among four regions of titin, A-band enrichment of DCM-causing TTNtvs is widely accepted but the underlying mechanism is still unknown. Meanwhile, few reports have identified exon 327 as a highly mut...

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Detalles Bibliográficos
Autores principales:	Kim, Young-gon, Ha, Changhee, Shin, Sunghwan, Park, Jong-ho, Jang, Ja-Hyun, Kim, Jong-Won
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845391/ https://www.ncbi.nlm.nih.gov/pubmed/36685919 http://dx.doi.org/10.3389/fgene.2022.1087359

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