Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q791fs
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MYBPC3

NM_000256.3:p.Q791fs

Associated Papers

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 2024

Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.

Boen HM et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2022

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

McNamara JW et al.

Plos One, 2017

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-s2.pdf

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Kassem HSh et al.

Journal of Cardiovascular Translational Research, 2013

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL et al.

Journal of the American College of Cardiology, 2004

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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."