Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.R414S
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ACAD9

NM_014049.5:p.R414S

Associated Papers

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.

Aintablian HK et al.

Molecular Genetics and Metabolism Reports, 2017

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

Dewulf JP et al.

Molecular Genetics and Metabolism, 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."