Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.A320T
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ACADS

NM_000017.4:p.A320T

Associated Papers

Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.

Rautajoki KJ et al.

Acta Neuropathologica Communications, 2023

37932833 (PubMed )
Supplement: 40478_2023_1669_MOESM1_ESM.xlsx › Table_S3

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.

Yun JW et al.

Clinical Genetics, 2015

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pedersen CB et al.

Pediatric Research, 2006

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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."