Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.T653I
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RBM20

NM_001134363.3:p.T653I

Associated Papers

Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.

Zhang Y et al.

Jci Insight, 2023

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience.

Piekutowska-Abramczuk D et al.

Genes, 2022

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.

Junttila MJ et al.

Circulation, 2018

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

Zahr HC et al.

Frontiers in Genetics, 2018

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

Li D et al.

Clinical and Translational Science, 2010

[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."