Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R688*
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RBM20

NM_001134363.3:p.R688*

Associated Papers

High incidence of malignant arrhythmias and heart failure in patients with RBM20-associated cardiomyopathy: A multicenter cohort study and review of the literature.

Tukker M et al.

International Journal of Cardiology, 2025

Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.

Gregorich ZR et al.

Circulation. Genomic and Precision Medicine, 2024

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

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

Jordà P et al.

Journal of Personalized Medicine, 2021

Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.

Sun Y et al.

Frontiers in Cardiovascular Medicine, 2021

37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1

New Insights in RBM20 Cardiomyopathy.

Lennermann D et al.

Current Heart Failure Reports, 2020

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Boudellioua I et al.

Scientific Reports, 2018

30279426 (PubMed )
Supplement: 41598_2018_32876_MOESM1_ESM.pdf

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

Zahr HC et al.

Frontiers in Genetics, 2018

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

Waldmüller S et al.

Molecular and Cellular Probes, 2015

[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."