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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPRL2

Variant:p.D253fs

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NPRL2

NM_006545.5:p.D253fs

hg38:chr3:50348374 GTC>N

Associated Papers

Everolimus precision therapy in NPRL2- and NPRL3-related epilepsy.

Carapancea E et al.

Epilepsia, 2025

40956028 (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."