Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.E60fs
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MYBPC3

NM_000256.3:p.E60fs

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.

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

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.

Lahrouchi N et al.

European Journal of Human Genetics : Ejhg, 2020

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Burns C et al.

Circulation. Cardiovascular Genetics, 2017

28790153 (PubMed )
Supplement: circgenetics_circcvg-2016-001666_supp1.pdf

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Ross SB et al.

Circulation. Cardiovascular Genetics, 2017

28615295 (PubMed )
Supplement: circgenetics_circcvg-2016-001671_supp1.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

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

Kapplinger JD et al.

Journal of Cardiovascular Translational Research, 2014

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