Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.V547_Y548delFs
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MYBPC3

NM_000256.3:p.V547_Y548delFs

Associated Papers

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

Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.

Stava TT et al.

European Journal of Preventive Cardiology, 2022

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

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

Dejgaard LA et al.

Data in Brief, 2017

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."