Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1G
Variant:p.R1718G
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CACNA1G

NM_018896.5:p.R1718G

Associated Papers

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Qebibo L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."