Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.R532Q
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ACAD9

NM_014049.5:p.R532Q

Associated Papers

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Collet M et al.

European Journal of Human Genetics : Ejhg, 2016

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Schiff M et al.

Human Molecular Genetics, 2015

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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."