Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.E1026K
Back to variants list

RBM20

NM_001134363.3:p.E1026K

Associated Papers

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Al-Shafai KN et al.

Molecular Genetics & Genomic Medicine, 2021

34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Aguib Y et al.

Npj Genomic Medicine, 2020

33110626 (PubMed )
Supplement: 41525_2020_153_MOESM1_ESM.pdf

Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.

Chockalingam P et al.

Indian Heart Journal, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."