Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.T459insFs
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NPRL3

NM_001077350.3:p.T459insFs

Associated Papers

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

GATOR1 complex: the common genetic actor in focal epilepsies.

Baldassari S et al.

Journal of Medical Genetics, 2016

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

Ricos MG et al.

Annals of Neurology, 2016

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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."