Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E374V
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MYH7

NM_000257.4:p.E374V

Associated Papers

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_S3

Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1E321G.

Ochala J et al.

Cells, 2021

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Norrish G et al.

Circulation, 2019

31006259 (PubMed )
Supplement: cir-140-184-s001.pdf

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

Alamo L et al.

Elife, 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
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