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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCN2

Variant:p.E478del1

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HCN2

NM_001194.4:p.E478del1

hg38:chr19:608174 CAGG>C

Associated Papers

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

Houdayer C et al.

Annals of Neurology, 2025

40468825 (PubMed )

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Houdayer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38562733 (PubMed )

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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."