Varaico: Literature-Extracted Genetic Variants

Gene:NEBL
Variant:p.R677R
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NEBL

NM_006393.3:p.R677R

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Brandão KO et al.

Stem Cell Reports, 2020

33176122 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_4

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

Perrot A et al.

Archives of Medical Science : Ams, 2016

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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."