Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.A384fs
Back to variants list

NPRL3

NM_001077350.3:p.A384fs

Associated Papers

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

Su S et al.

Seizure, 2025

Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.

Yang D et al.

Epilepsia Open, 2024

37902097 (PubMed )
Supplement: EPI4-9-33-s002.xlsx › Sheet1

Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.

Dainelli A et al.

Epilepsia Open, 2023

Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.

Zhang H et al.

Frontiers in Neurology, 2023

Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.

Blümcke I et al.

Epilepsia, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."