Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.S677L
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CACNA1H

NM_021098.3:p.S677L

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

Liang J et al.

Annals of Human Genetics, 2007

New variants in the CACNA1H gene identified in childhood absence epilepsy.

Liang J et al.

Neuroscience Letters, 2006

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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."