Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.P645L
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RBM20

NM_001134363.3:p.P645L

Associated Papers

From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models.

Capasso M et al.

Journal of Translational Medicine, 2024

38351008 (PubMed )
Supplement: 12967_2024_4954_MOESM2_ESM.xlsx › Table_S4

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C et al.

Peerj, 2021

33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › list_of_307_variants_

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

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