Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R54Q
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MYH7

NM_000257.4:p.R54Q

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.

Su W et al.

Frontiers in Cardiovascular Medicine, 2025

40693221 (PubMed )
Supplement: Datasheet1.pdf

Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.

Girolami F et al.

Frontiers in Cardiovascular Medicine, 2022

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Left atrial fibrosis correlates with extent of left ventricular myocardial delayed enhancement and left ventricular strain in hypertrophic cardiomyopathy.

Latif SR et al.

The International Journal of Cardiovascular Imaging, 2019

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Bonaventura J et al.

Archives of Medical Science : Ams, 2019

31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

Zhao Y et al.

International Journal of Molecular Medicine, 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_S1B
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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."