Varaico: Literature-Extracted Genetic Variants

Gene:AUH
Variant:p.S27fs
Back to variants list

AUH

NM_001698.3:p.S27fs

Associated Papers

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Hertzog A et al.

Jimd Reports, 2022

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.

Nardecchia F et al.

International Journal of Molecular Sciences, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."