Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R481C
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CACNA1H

NM_021098.3:p.R481C

Associated Papers

Ion Channel Genes in Painful Neuropathies.

Ślęczkowska M et al.

Biomedicines, 2023

Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.

Souza IA et al.

Molecular Brain, 2021

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Huang M et al.

Molecular Brain, 2021

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.

Dong W et al.

Iscience, 2020

33083721 (PubMed )
Supplement: mmc6.xlsx › ST5B
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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."