Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.R63Splc
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NPRL3

NM_001077350.3:p.R63Splc

Associated Papers

An overview of the value of mTOR inhibitors to the treatment of epilepsy: the evidence to date.

Moloney PB et al.

Expert Review of Neurotherapeutics, 2025

Genetic testing in children enrolled in epilepsy surgery program. A real-life study.

Straka B et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023

Everolimus precision therapy for the GATOR1-related epilepsies: A case series.

Moloney PB et al.

European Journal of Neurology, 2023

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.

Straka B et al.

Neurology. Genetics, 2022

Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review.

Hu J et al.

Frontiers in Genetics, 2022

36685832 (PubMed )
Supplement: Table1.XLSX › Sheet1
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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."