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A Novel No-Start Mutation in the <em>HEY2</em> Gene Associated with Loss of Function and a Combined Phenotype of Arrhythmogenic Electrical-Predominant Cardiomyopathy

2026-06-08

Abstract excerpt

Cardiomyopathies and cardiac arrhythmias represent a heterogeneous group of pathologies. If not diagnosed promptly, they can lead to serious complications such as heart failure, stroke, or sudden death. The role of medical genetics laboratories in identifying the gene mutation responsible for these heart defects is becoming increasingly significant. Identifying these diseases in the pre-clinical stage allows preve...

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Identifiers and source

Literature Corpus work
cce355e2-b58d-5028-b142-31e18808f9af
DOI
10.20944/preprints202606.0600.v1
Open publication

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