Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.L227R
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CACNA1A

NM_001127222.2:p.L227R

Associated Papers

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.

Andjelkovic M et al.

Molecular Diagnosis & Therapy, 2024

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Brunklaus A et al.

Human Mutation, 2020

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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."