Varaico: Literature-Extracted Genetic Variants

Gene:COMMD3
Variant:p.D47Splc
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COMMD3

NM_012071.4:p.D47Splc

Associated Papers

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

van Kuilenburg AB et al.

Human Molecular Genetics, 2004

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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."