Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q1259*
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MYBPC3

NM_000256.3:p.Q1259*

Associated Papers

Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers.

Canciello G et al.

International Journal of Molecular Sciences, 2024

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations.

Borrelli F et al.

Journal of Cardiovascular Translational Research, 2024

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Mazzaccara C et al.

Biomolecules, 2022

Non-invasive prediction of genotype positive-phenotype negative in hypertrophic cardiomyopathy by 3D modern shape analysis.

Piras P et al.

Experimental Physiology, 2019

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

Cecconi M et al.

International Journal of Molecular Medicine, 2016

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

Rubattu S et al.

International Journal of Molecular Sciences, 2016

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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."