Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.P769L
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CACNA1H

NM_021098.3:p.P769L

Associated Papers

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Musante L et al.

Genes, 2022

Genetic T-type calcium channelopathies.

Weiss N et al.

Journal of Medical Genetics, 2020

Two heterozygous Cav3.2 channel mutations in a pediatric chronic pain patient: recording condition-dependent biophysical effects.

Souza IA et al.

Pflugers Archiv : European Journal of Physiology, 2016

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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."