Varaico: Literature-Extracted Genetic Variants

Gene:NFU1
Variant:p.P49fs
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NFU1

NM_001002755.4:p.P49fs

Associated Papers

A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.

Lebigot E et al.

Biomedicines, 2021

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

Lebigot E et al.

Molecular Genetics and Metabolism, 2017

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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."