Varaico: Literature-Extracted Genetic Variants

Gene:ACAD8
Variant:p.S282F
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ACAD8

NM_014384.3:p.S282F

Associated Papers

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.

Feng J et al.

Orphanet Journal of Rare Diseases, 2021

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.

Santra S et al.

Molecular Genetics and Metabolism Reports, 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."