Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.A390T
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ACAD9

NM_014049.5:p.A390T

Associated Papers

Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.

Yang J et al.

Cells, 2022

Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.

Xia C et al.

Iscience, 2021

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

Hypertrophic cardiomyopathy in mitochondrial disorders: description of an uncommon clinical case.

Marsico F et al.

European Journal of Heart Failure, 2017

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Schrank B et al.

Neuromuscular Disorders : Nmd, 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
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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."