Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.I1342T
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CACNA1A

NM_001127221.2:p.I1342T

Associated Papers

Altered Gating of Two CaV2.1 Variants Linked to Neurodevelopmental Disorders With Epilepsy and Migraine.

Meza U et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Luo X et al.

Plos Genetics, 2017

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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."