Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R766K
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CACNA1H

NM_021098.3:p.R766K

Associated Papers

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

Makhmetov S et al.

Heliyon, 2025

39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.

Fan J et al.

Frontiers in Cardiovascular Medicine, 2024

38450374 (PubMed )
Supplement: Table9.xls › Sheet2
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