Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.P719_Q722del0
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HCN2

NM_001194.4:p.P719_Q722del0

Associated Papers

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Martins Custodio H et al.

Brain : a Journal of Neurology, 2023

37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File013.xlsx › Sheet_1

Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Treat JA et al.

International Journal of Molecular Sciences, 2021

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.

Tang B et al.

Neurobiology of Disease, 2008

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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."