Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.Y681C
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RBM20

NM_001134363.3:p.Y681C

Associated Papers

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

Martini M et al.

Biomolecules, 2024

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S11

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

Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.

Herkert JC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.

Santori M et al.

Archives of Disease in Childhood, 2015

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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."