Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L992M
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MYH7

NM_000257.4:p.L992M

Associated Papers

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

Lippi M et al.

Biomolecules, 2022

36008935 (PubMed )
Supplement: biomolecules-12-01043-s001.zip › biomolecules-1806599-supplementary-proof_done-update.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

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
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