Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.P1039S
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RBM20

NM_001134363.3:p.P1039S

Associated Papers

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

Martini M et al.

Biomolecules, 2024

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.

Pham C et al.

Circulation. Genomic and Precision Medicine, 2023

37199186 (PubMed )
Supplement: hcg-16-328-s001.pdf

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2

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

Jordà P et al.

Journal of Personalized Medicine, 2021

Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.

Gaertner A et al.

Human Mutation, 2020

New Insights in RBM20 Cardiomyopathy.

Lennermann D et al.

Current Heart Failure Reports, 2020

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.

van den Hoogenhof MMG et al.

Circulation, 2018

29650543 (PubMed )
Supplement: circ_circulationaha-2017-031947_supp1.pdf

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
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