Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.C249*
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MYBPC3

NM_000256.3:p.C249*

Associated Papers

Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.

Earle NJ et al.

Circulation. Heart Failure, 2024

38456273 (PubMed )
Supplement: hhf-17-e010970-s001.pdf

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.

Kim Y et al.

Circulation. Genomic and Precision Medicine, 2023

37767697 (PubMed )
Supplement: hcg-16-452-s001.pdf

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8

Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.

Joy G et al.

Circulation, 2023

37463608 (PubMed )
Supplement: cir-148-808-s001.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
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