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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1A

Variant:p.N295I

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CACNA1A

NM_001127222.2:p.N295I

hg38:chr19:13359700 T>A

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

39003674 (PubMed )

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