Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.R325Q
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ACADS

NM_000017.4:p.R325Q

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

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.

Xiao G et al.

Frontiers in Genetics, 2024

Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.

Koshiba S et al.

Communications Biology, 2020

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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."