Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.K56_V57Splc
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CSTB

NM_000100.4:p.K56_V57Splc

Associated Papers

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

de Sainte Agathe JM et al.

European Journal of Neurology, 2025

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK et al.

Pediatric Research, 2003

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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."