Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.Q355*
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NPRL3

NM_001077350.3:p.Q355*

Associated Papers

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

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

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

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.

Canavati C et al.

Epilepsia, 2019

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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."