Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.D418G
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ACAD9

NM_014049.5:p.D418G

Associated Papers

New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.

Murgia C et al.

Nutrition & Metabolism, 2023

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

Xia C et al.

Iscience, 2021

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM et al.

Orphanet Journal of Rare Diseases, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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."