Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.I921V
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RBM20

NM_001134363.3:p.I921V

Associated Papers

Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.

Lindholm ME et al.

Frontiers in Cardiovascular Medicine, 2025

Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.

Koutsofti C et al.

Genes, 2024

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Exome_Sequencing

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
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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."