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Article

Reading Frame Repair of TTN Truncation Variants Restores Titin Quantity and Functions.

Circulation - 18 Jan 2022

Romano Robert, Ghahremani Shahnaz, Zimmerman Talia, Legere Nicholas, Thakar Ketan, Ladha Feria A, Pettinato Anthony M, Hinson J Travis

Abstract excerpt

BACKGROUND: Titin truncation variants (TTNtvs) are the most common inheritable risk factor for dilated cardiomyopathy (DCM), a disease with high morbidity and mortality. The pathogenicity of TTNtvs has been associated with structural localization as A-band variants overlapping myosin heavy chain-binding domains are more pathogenic than I-band variants by incompletely understood mechanisms. Demonstrating why...

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Identifiers

PMID: 34905694
DOI: 10.1161/CIRCULATIONAHA.120.049997
PMCID: PMC8766920

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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