Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.Q23K
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UPB1

NM_016327.3:p.Q23K

Associated Papers

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Nakajima Y et al.

Journal of Inherited Metabolic Disease, 2014

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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."