Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.R107H
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ACADS

NM_000017.4:p.R107H

Associated Papers

Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region.

Wang S et al.

International Journal of Legal Medicine, 2025

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

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

Men S et al.

Molecular Genetics & Genomic Medicine, 2023

Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.

Neubauer J et al.

International Journal of Legal Medicine, 2021

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Tan J et al.

Frontiers in Genetics, 2021

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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."