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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Bibliographic Details
Main Authors: Young-gon Kim, Changhee Ha, Sunghwan Shin, Jong-ho Park, Ja-Hyun Jang, Jong-Won Kim
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1087359/full