Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E22K
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MYH7

NM_000257.4:p.E22K

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

40306862 (PubMed )
Supplement: mmc1.pdf

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S12_RASopathy_A

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

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Alamo L et al.

Elife, 2017

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Harris SP et al.

Circulation Research, 2011

Sarcomeric proteins and inherited cardiomyopathies.

Morimoto S

Cardiovascular Research, 2008

Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.

Szczesna-Cordary D et al.

The Journal of Biological Chemistry, 2004

Molecular genetics of familial hypertrophic cardiomyopathy (FHC).

Bashyam MD et al.

Journal of Human Genetics, 2003

Molecular mechanisms of inherited cardiomyopathies.

Fatkin D et al.

Physiological Reviews, 2002

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