Varaico: Literature-Extracted Genetic Variants

Gene:NAXE
Variant:p.A248delFs
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NAXE

NM_144772.3:p.A248delFs

Associated Papers

NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.

Manor J et al.

Molecular Genetics and Metabolism, 2022

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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."