Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.A222V
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CACNA1A

NM_001127222.2:p.A222V

Associated Papers

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders.

Kurganov E et al.

Science Translational Medicine, 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."