Varaico: Literature-Extracted Genetic Variants

Gene:NPRL2
Variant:p.Q51*
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NPRL2

NM_006545.5:p.Q51*

Associated Papers

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

Zhu H et al.

Bmc Neurology, 2025

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

Zhang H et al.

Seizure, 2024

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