Varaico: Literature-Extracted Genetic Variants

Gene:UPB1
Variant:p.L22*
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UPB1

NM_016327.3:p.L22*

Associated Papers

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

van Kuilenburg AB et al.

Biochimica Et Biophysica Acta, 2012

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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."