Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Y340*
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MYBPC3

NM_000256.3:p.Y340*

Associated Papers

Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.

Preveden A et al.

Medicina (kaunas, Lithuania), 2022

35208637 (PubMed )
Supplement: medicina-58-00314-s001.zip › medicina-1570138-supplementary.pdf

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Helms AS et al.

Circulation. Genomic and Precision Medicine, 2020

32841044 (PubMed )
Supplement: hcg-13-396-s001.pdf

Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.

Maurizi N et al.

Jama Cardiology, 2018

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Coppini R et al.

Journal of the American College of Cardiology, 2014

25524337 (PubMed )
Supplement: mmc1.pdf

Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging.

Olivotto I et al.

Circulation. Heart Failure, 2012

Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

Olivotto I et al.

Journal of the American College of Cardiology, 2011

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

Olivotto I et al.

Mayo Clinic Proceedings, 2008

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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."