Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.D1337Y
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CACNA1A

NM_001127222.2:p.D1337Y

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_8.docx

Calcium channelopathies and intellectual disability: a systematic review.

Kessi M et al.

Orphanet Journal of Rare Diseases, 2021

33985586 (PubMed )
Supplement: 13023_2021_1850_MOESM2_ESM.docx
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