Varaico: Literature-Extracted Genetic Variants

Gene:AUH
Variant:p.S27fs
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AUH

NM_001698.3:p.S27fs

Associated Papers

A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.

Matsumori M et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2005

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

Ly TB et al.

Human Mutation, 2003

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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."