Titin-Truncating variants predispose to dilated cardiomyopathy in populations genetically similar to african and european reference populations.

Titin-Truncating variants predispose to dilated cardiomyopathy in populations genetically similar to african and european reference populations.

The effect of high percentage spliced in (hiPSI) TTN truncating variants (TTNtvs) on risk of dilated cardiomyopathy (DCM) has historically been studied among population subgroups defined by genetic similarity to European reference populations. This has raised questions about the effect of TTNtvs in...

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Bibliographic Details
Main Authors: John DePaolo, Marc R Bornstein, Renae Judy, Sarah Abramowitz, Shefali S Verma, Michael G Levin, Penn Medicine Biobank, Zoltan Arany, Scott M Damrauer
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-06-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1011727
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