Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.Q392*
Back to variants list

NPRL3

NM_001077350.3:p.Q392*

Associated Papers

From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey.

Nabavi Nouri M et al.

Genes, 2024

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

Yang D et al.

Epilepsia Open, 2024

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
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."