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Article

Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?

The Journal of general physiology - 3 Apr 2023

Barefield David Y

Abstract excerpt

Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels.

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Share to Haploinsufficiency
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Share to Cardiomyopathy, Hypertrophic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36946992
DOI: 10.1085/jgp.202313351
PMCID: PMC10072154

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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