Varaico: Literature-Extracted Genetic Variants

Gene:ACADSB
Variant:p.Y199C
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ACADSB

NM_001609.4:p.Y199C

Associated Papers

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Lin Y et al.

Scientific Reports, 2025

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.

Lin Y et al.

Frontiers in Genetics, 2019

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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."