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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCN1

Variant:p.E246A

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HCN1

NM_021072.4:p.E246A

hg38:chr5:45645297 T>G

Associated Papers

HCN1 epilepsy: From genetics and mechanisms to precision therapies.

Bleakley LE et al.

Journal of Neurochemistry, 2024

37565989 (PubMed )

Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report.

Mckenzie CE et al.

Frontiers in Neurology, 2022

35359652 (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."