Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D2
Variant:p.N432fs
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CACNA2D2

NM_006030.4:p.N432fs

Associated Papers

Calcium channelopathies and intellectual disability: a systematic review.

Kessi M et al.

Orphanet Journal of Rare Diseases, 2021

Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants.

Butler KM et al.

Case Reports in Genetics, 2018

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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."