Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1E
Variant:p.A702P
Back to variants list

CACNA1E

NM_001205293.3:p.A702P

Associated Papers

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL et al.

American Journal of Human Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."