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Article

Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.

Circulation - 8 Dec 2020

Pettinato Anthony M, Ladha Feria A, Mellert David J, Legere Nicholas, Cohn Rachel, Romano Robert, Thakar Ketan, Chen Yu-Sheng, Hinson J Travis

Abstract excerpt

BACKGROUND: Pathogenic TNNT2 variants are a cause of hypertrophic and dilated cardiomyopathies, which promote heart failure by incompletely understood mechanisms. The precise functional significance for 87% of TNNT2 variants remains undetermined, in part, because of a lack of functional genomics studies. The knowledge of which and how TNNT2 variants cause hypertrophic and dilated cardiomyopathies could improve...

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Identifiers

PMID: 33025817
DOI: 10.1161/CIRCULATIONAHA.120.047999
PMCID: PMC7722228

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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