Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.E258Q
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MYBPC3

NM_000256.3:p.E258Q

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.

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Hathaway J et al.

Bmc Cardiovascular Disorders, 2021

33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Helms AS et al.

Circulation. Genomic and Precision Medicine, 2020

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.

Marstrand P et al.

Circulation, 2020

32228044 (PubMed )
Supplement: cir-141-1371-s001.pdf

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE et al.

Clinical Genetics, 2014

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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."