Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.R326W
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UPB1

NM_016327.3:p.R326W

Associated Papers

Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.

Fang Y et al.

Medicine, 2019

Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism.

Maurer D et al.

The Biochemical Journal, 2018

A Japanese case of β-ureidopropionase deficiency with dysmorphic features.

Akiyama T et al.

Brain & Development, 2017

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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."