Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E1468K
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MYH7

NM_000257.4:p.E1468K

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.

Fetisova S et al.

Pediatric Research, 2025

40102575 (PubMed )
Supplement: 41390_2025_3989_MOESM2_ESM.xlsx › ____1

Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.

Lindholm ME et al.

Frontiers in Cardiovascular Medicine, 2025

40791945 (PubMed )
Supplement: Datasheet1.xls › Compile

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.

Mattos BP et al.

Arquivos Brasileiros De Cardiologia, 2016

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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."