Varaico: Literature-Extracted Genetic Variants

Gene:NFU1
Variant:p.G190R
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NFU1

NM_001002755.4:p.G190R

Associated Papers

Phenotypic continuum of NFU1-related disorders.

Kaiyrzhanov R et al.

Annals of Clinical and Translational Neurology, 2022

36256512 (PubMed )
Supplement: ACN3-9-2025-s002.docx

Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.

Camponeschi F et al.

Biomolecules, 2022

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

Lebigot E et al.

Biomedicines, 2021

Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans.

Kropp PA et al.

Plos Genetics, 2021

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U et al.

Frontiers in Genetics, 2015

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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."