Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.G1077S
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HCN4

NM_005477.3:p.G1077S

Associated Papers

Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family.

Fraile A et al.

The Canadian Journal of Cardiology, 2024

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.

Schweizer PA et al.

Journal of the American College of Cardiology, 2017

Reply: A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.

Arbustini E et al.

Journal of the American College of Cardiology, 2017

Pacemaker activity of the human sinoatrial node: an update on the effects of mutations in HCN4 on the hyperpolarization-activated current.

Verkerk AO et al.

International Journal of Molecular Sciences, 2015

A novel trafficking-defective HCN4 mutation is associated with early-onset atrial fibrillation.

Macri V et al.

Heart Rhythm, 2014

HCN4 and arrhythmias: Insights into base mutations.

Fan W et al.

Mutation Research. Reviews in Mutation Research, 0

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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."