Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.H515Y
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CACNA1H

NM_021098.3:p.H515Y

Associated Papers

New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.

Yan Q et al.

Frontiers in Medicine, 2025

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

Lewis H et al.

Pediatric Neurology, 2020

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

[T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy].

Lü JJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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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."