Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.P144delFs
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MYL2

NM_000432.4:p.P144delFs

Associated Papers

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

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

Sarcomeric myopathies associated with tremor: new insights and perspectives.

Stavusis J et al.

Journal of Muscle Research and Cell Motility, 2020

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

Weterman MA et al.

Brain : a Journal of Neurology, 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."