Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.S193L
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ACADS

NM_000017.4:p.S193L

Associated Papers

Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).

Qian G et al.

Molecular Genetics and Metabolism Reports, 2026

Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.

Hu H et al.

International Journal of Neonatal Screening, 2024

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA006

Mitochondrial fatty acid oxidation defects--remaining challenges.

Gregersen N et al.

Journal of Inherited Metabolic Disease, 2008

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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."