Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.Q288*
Back to variants list

CACNA1A

NM_001127222.2:p.Q288*

Associated Papers

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.

Sanri A et al.

Brain & Development, 2026

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.

Tian WT et al.

Seizure, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."