Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R703S
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RBM20

NM_001134363.3:p.R703S

Associated Papers

Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.

Martini M et al.

Biomolecules, 2024

RBM20-Related Cardiomyopathy: Current Understanding and Future Options.

Koelemen J et al.

Journal of Clinical Medicine, 2021

Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.

Jordà P et al.

Journal of Personalized Medicine, 2021

New Insights in RBM20 Cardiomyopathy.

Lennermann D et al.

Current Heart Failure Reports, 2020

Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy.

Zahr HC et al.

Frontiers in Genetics, 2018

Alternative Splicing Regulator RBM20 and Cardiomyopathy.

Watanabe T et al.

Frontiers in Molecular Biosciences, 2018

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

Wells QS et al.

Circulation. Cardiovascular Genetics, 2013

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

Refaat MM et al.

Heart Rhythm, 2012

[LMNA gene and dilated cardiomyopathy].

Sun LP et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2009

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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."