Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.R77W
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NDUFS8

NM_002496.4:p.R77W

Associated Papers

Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.

Epifane-de-Assunção MC et al.

Molecular Neurobiology, 2025

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.

Wang S et al.

Molecules (basel, Switzerland), 2022

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Moreira JD et al.

Genes, 2021

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.

Barshad G et al.

Scientific Reports, 2019

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease.

Modjtahedi N et al.

Trends in Biochemical Sciences, 2016

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Haack TB et al.

Journal of Medical Genetics, 2012

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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."