Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.R481_T482Splc
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DPYS

NM_001385.3:p.R481_T482Splc

Associated Papers

Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.

Yaplito-Lee J et al.

Molecular Genetics and Metabolism, 2008

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

van Kuilenburg AB et al.

Human Molecular Genetics, 2004

Disorders of purine and pyrimidine metabolism.

Nyhan WL

Molecular Genetics and Metabolism, 0

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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."