Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.L231R
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CACNA1A

NM_001127222.2:p.L231R

Associated Papers

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?

Ilic N et al.

Genes, 2024

38927725 (PubMed )
Supplement: genes-15-00789-s001.zip › genes-3017928-supplementary.pdf

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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