Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.M102L
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ACADS

NM_000017.4:p.M102L

Associated Papers

Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

Gobin-Limballe S et al.

Biochimica Et Biophysica Acta, 2010

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Busquets C et al.

Pediatric Research, 2000

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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."