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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPRL3

Variant:p.I107fs

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NPRL3

NM_001077350.3:p.I107fs

hg38:chr16:117375 GAT>N

Associated Papers

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.

Du S et al.

Science China. Life Sciences, 2023

37071290 (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."