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Article

Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes.

Journal of molecular and cellular cardiology - 1 May 2020

Tadros Hanna J, Life Chelsea S, Garcia Gustavo, Pirozzi Elisa, Jones Edward G, Datta Susmita, Parvatiyar Michelle S, Chase P Bryant, Allen Hugh D, Kim Jeffrey J, Pinto Jose R, Landstrom Andrew P

Abstract excerpt

INTRODUCTION: Troponin (TNN)-encoded cardiac troponins (Tn) are critical for sensing calcium and triggering myofilament contraction. TNN variants are associated with development of cardiomyopathy; however, recent advances in genetic analysis have identified rare population variants. It is unclear how certain variants are associated with disease while others are tolerated. OBJECTIVE: To compare probands with...

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Identifiers

PMID: 32278834
DOI: 10.1016/j.yjmcc.2020.04.005
PMCID: PMC7275889

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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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