Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.S209_D210Splc
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CASP1

NM_001257118.3:p.S209_D210Splc

Associated Papers

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

Nicita F et al.

Journal of Child Neurology, 2010

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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."