Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.I49_S50del1
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MYBPC3

NM_000256.3:p.I49_S50del1

Associated Papers

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

37431535 (PubMed )
Supplement: ehad372_supplementary_data.zip › supplementary_tables_revised_version_Feb2023.xlsx › Table_S5

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

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R et al.

Nature Genetics, 2021

33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST2

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

Dejgaard LA et al.

Data in Brief, 2017

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

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."