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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCN4

Variant:p.P446L

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HCN4

NM_005477.3:p.P446L

hg38:chr15:73332165 G>A

Associated Papers

CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies.

Zhang W et al.

Genes & Diseases, 2025

40330149 (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."