Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.S279F
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NPRL3

NM_001077350.3:p.S279F

Associated Papers

Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.

Su S et al.

Seizure, 2025

Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.

Zhang H et al.

Frontiers in Neurology, 2023

A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci.

Li Y et al.

Frontiers in Genetics, 2021

GATOR1 complex: the common genetic actor in focal epilepsies.

Baldassari S et al.

Journal of Medical Genetics, 2016

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

Ricos MG et al.

Annals of Neurology, 2016

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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."