Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.L226W
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CACNA1A

NM_001127222.2:p.L226W

Associated Papers

A Review of the CACNA Gene Family: Its Role in Neurological Disorders.

Szymanowicz O et al.

Diseases (basel, Switzerland), 2024

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

Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability.

Alehabib E et al.

Clinical Neurology and Neurosurgery, 2022

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.

Li XL et al.

Frontiers in Molecular Neuroscience, 2022

35600082 (PubMed )
Supplement: Table_1.DOCX
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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."