Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.H205Q
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HCN2

NM_001194.4:p.H205Q

Associated Papers

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

Houdayer C et al.

Annals of Neurology, 2025

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Houdayer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.

Cámara-Checa A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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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."