Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R1677H
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MYH7

NM_000257.4:p.R1677H

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Al-Shafai KN et al.

Molecular Genetics & Genomic Medicine, 2021

34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.

Kolokotronis K et al.

Human Mutation, 2019

A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family.

Liu XY et al.

Chinese Medical Journal, 2019

Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

Dejgaard LA et al.

Data in Brief, 2017

Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.

Dewar LJ et al.

Circulation. Cardiovascular Genetics, 2017

28807990 (PubMed )
Supplement: supplemental_material_revised_1738.pdf
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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."