Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R442L
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MYH7

NM_000257.4:p.R442L

Associated Papers

Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling.

Loiben AM et al.

The Journal of Clinical Investigation, 2026

Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.

Ryu SW et al.

Cardiovascular Diagnosis and Therapy, 2025

41509624 (PubMed )
Supplement: cdt-15-06-1174-supplementary.pdf

Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department.

Horgan S et al.

Journal of Medical Genetics, 2025

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Electrocardiographic and genetic characteristics in first degree relatives of hypertrophic cardiomyopathy probands: A descriptive cross-sectional study from Vietnam.

Phan PD et al.

Jrsm Cardiovascular Disease, 0

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