Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.T169P
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ACADS

NM_000017.4:p.T169P

Associated Papers

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Gallant NM et al.

Molecular Genetics and Metabolism, 2012

[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].

van Maldegem BT et al.

Nederlands Tijdschrift Voor Geneeskunde, 2008

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

van Maldegem BT et al.

Jama, 2006

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Waisbren SE et al.

Molecular Genetics and Metabolism, 0

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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."