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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPRL3

Variant:p.T441M

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NPRL3

NM_001077350.3:p.T441M

hg38:chr16:89742 G>A

Associated Papers

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

Su S et al.

Seizure, 2025

41197257 (PubMed )

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

Yang D et al.

Epilepsia Open, 2024

37902097 (PubMed )

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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."