Varaico: Literature-Extracted Genetic Variants

Gene:NAXE
Variant:p.G124C
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NAXE

NM_144772.3:p.G124C

Associated Papers

Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease.

Xu C et al.

Orphanet Journal of Rare Diseases, 2026

Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review.

Zhu Y et al.

Frontiers in Pediatrics, 2026

De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report.

Ding L et al.

World Journal of Clinical Cases, 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."