Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.V384M
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ACAD9

NM_014049.5:p.V384M

Associated Papers

Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.

Watanabe C et al.

Molecular Genetics and Metabolism Reports, 2023

Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry.

Warren C et al.

Scientific Reports, 2020

32948797 (PubMed )
Supplement: 41598_2020_70885_MOESM1_ESM.pdf

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Ahmed ST et al.

Scientific Reports, 2017

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Dombi E et al.

Neurology, 2016

27164671 (PubMed )
Supplement: supp_WNL.0000000000002688_Supplementary_text.doc

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

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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."