Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.L238fs
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CACNA1A

NM_001127222.2:p.L238fs

Associated Papers

The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.

Kessi M et al.

Frontiers in Molecular Neuroscience, 2023

37555011 (PubMed )
Supplement: Table_2.docx

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Lee CG et al.

Plos One, 2018

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