Varaico: Literature-Extracted Genetic Variants

Gene:NAPB
Variant:p.R116fs
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NAPB

NM_022080.3:p.R116fs

Associated Papers

Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant.

Orak SA et al.

Molecular Syndromology, 2024

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Mignon-Ravix C et al.

Epilepsia, 2023

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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."