Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.R1197C
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ABCC9

NM_020297.4:p.R1197C

Associated Papers

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Guo J et al.

Human Genomics, 2025

40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs.

Furrow E et al.

Genes, 2023

Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.

Huang Y et al.

Circulation. Arrhythmia and Electrophysiology, 2019

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Chen CJ et al.

Frontiers in Genetics, 2018

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Zhang L et al.

Mayo Clinic Proceedings, 2016

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.

Hu D et al.

International Journal of Cardiology, 2014

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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."