Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.M265_Q266Splc
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ACADS

NM_000017.4:p.M265_Q266Splc

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

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Cao Z et al.

Molecular Genetics & Genomic Medicine, 2024

38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1

Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.

Wang X et al.

Pharmacogenomics and Personalized Medicine, 2023

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.

Li X 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."