Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.P144delFs
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MYL2

NM_000432.4:p.P144delFs

Associated Papers

Novel mutation associated with non-compaction ventricular myocardium: A case report.

Li Y et al.

Esc Heart Failure, 2025

40956134 (PubMed )
Supplement: EHF2-12-4548-s011.xlsx › Sheet1

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5

Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy.

Tamamitsu AM et al.

International Heart Journal, 2021

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Manivannan SN et al.

Plos Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."