Varaico: Literature-Extracted Genetic Variants

Gene:NPRL2
Variant:p.R311Splc
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NPRL2

NM_006545.5:p.R311Splc

Associated Papers

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

Su S et al.

Seizure, 2025

Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review.

Zhang H et al.

Seizure, 2024

Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.

Zhou X et al.

Clinical Dysmorphology, 2022

Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review.

Sun Y et al.

Frontiers in Neurology, 2021

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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."