Varaico: Literature-Extracted Genetic Variants

Gene:NPRL2
Variant:p.T346I
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NPRL2

NM_006545.5:p.T346I

Associated Papers

Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy.

Ruan Y et al.

Frontiers in Pediatrics, 2026

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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."