Varaico: Literature-Extracted Genetic Variants

Gene:HCN3
Variant:p.P630L
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HCN3

NM_020897.3:p.P630L

Associated Papers

Hyperpolarization-activated cyclic nucleotide-gated channels and epilepsy: genetics, circuits, and treatments.

Cai MS et al.

Frontiers in Neurology, 2025

Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations.

Zhao P et al.

Epilepsia Open, 2024

The Contribution of HCN Channelopathies in Different Epileptic Syndromes, Mechanisms, Modulators, and Potential Treatment Targets: A Systematic Review.

Kessi M et al.

Frontiers in Molecular Neuroscience, 2022

Loss-of-function variants in ATM confer risk of gastric cancer.

Helgason H et al.

Nature Genetics, 2015

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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."