Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.M20L
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MYL2

NM_000432.4:p.M20L

Associated Papers

Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.

Preveden A et al.

Medicina (kaunas, Lithuania), 2022

35208637 (PubMed )
Supplement: medicina-58-00314-s001.zip › medicina-1570138-supplementary.pdf

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_S2

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Sitbon YH et al.

Journal of Muscle Research and Cell Motility, 2020

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Yadav S et al.

Pflugers Archiv : European Journal of Physiology, 2019

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.

Maurizi N et al.

Jama Cardiology, 2018

Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.

Yadav S et al.

Biophysical Reviews, 2017

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Coppini R et al.

Journal of the American College of Cardiology, 2014

25524337 (PubMed )
Supplement: mmc1.pdf

Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.

Burghardt TP et al.

Biochemistry, 2013

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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."