Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.G402W
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ACAD9

NM_014049.5:p.G402W

Associated Papers

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.

Dubucs C et al.

Molecular Syndromology, 2023

Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene.

Finsterer J et al.

Molecular Genetics and Metabolism Reports, 2017

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Fragaki K et al.

Molecular Genetics and Metabolism, 2017

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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."