Varaico: Literature-Extracted Genetic Variants

Gene:CELSR3
Variant:p.G2136D
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CELSR3

NM_001407.3:p.G2136D

Associated Papers

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.

Li J et al.

Cns Neuroscience & Therapeutics, 2022

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M

Pediatric Neurology, 2015

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

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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."