Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.M1V
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ACAD9

NM_014049.5:p.M1V

Associated Papers

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.

Burgin HJ et al.

Febs Letters, 2020

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

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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."