Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R1022S
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MYBPC3

NM_000256.3:p.R1022S

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 › S12._IEVs_Additional_evidence

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

Suay-Corredera C et al.

The Journal of Biological Chemistry, 2021

34097875 (PubMed )
Supplement: mmc1.pdf

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

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."