Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.P715del1
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HCN2

NM_001194.4:p.P715del1

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

Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing.

Li Q et al.

Journal of Gastrointestinal Oncology, 2022

36092348 (PubMed )
Supplement: jgo-13-04-1864-supplementary.pdf

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Coll M et al.

Plos One, 2017

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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."