Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF8
Variant:p.F18fs
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NDUFAF8

NM_001086521.2:p.F18fs

Associated Papers

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.

Gaignard P et al.

American Journal of Medical Genetics. Part A, 2025

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

Lim AZ et al.

Annals of Neurology, 2022

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Alston CL et al.

American Journal of Human Genetics, 2020

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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."