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Article

Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

Circulation. Cardiovascular genetics - 1 Dec 2012

Pan Stephen, Caleshu Colleen A, Dunn Kyla E, Foti Marcia J, Moran Maura K, Soyinka Oretunlewa, Ashley Euan A

Abstract excerpt

BACKGROUND: The clinical significance of variants in genes associated with inherited cardiomyopathies can be difficult to determine because of uncertainty regarding population genetic variation and a surprising amount of tolerance of the genome even to loss-of-function variants. We hypothesized that genes associated with cardiomyopathy might be particularly resistant to the accumulation of genetic variation....

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Source

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Identifiers

PMID: 23074333
DOI: 10.1161/CIRCGENETICS.112.963421
PMCID: PMC3526690

Genes

MYBPC3
MYH7
TNNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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