Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.N283S
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CACNA1A

NM_001127222.2:p.N283S

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

Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.

Niu X et al.

Developmental Medicine and Child Neurology, 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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