Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.A170delFs
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ACADS

NM_000017.4:p.A170delFs

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

[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].

Huang XW et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016

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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."