Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.K542R
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MYH7

NM_000257.4:p.K542R

Associated Papers

Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.

Antheia K et al.

Scientific Reports, 2025

41214182 (PubMed )
Supplement: 41598_2025_27238_MOESM1_ESM.pdf

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.

Description of longitudinal tumor evolution in a case of multiply relapsed clear cell sarcoma of the kidney.

Yaguchi T et al.

Cancer Reports (hoboken, N.j.), 2022

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J et al.

Circulation. Cardiovascular Genetics, 2017

28356264 (PubMed )
Supplement: circgenetics_circcvg-2016-001584_supp1.pdf

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

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

Coto E et al.

The Journal of Molecular Diagnostics : Jmd, 2012

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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."