Varaico: Literature-Extracted Genetic Variants

Gene:UMPS
Variant:p.V151M
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UMPS

NM_000373.4:p.V151M

Associated Papers

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Wortmann SB et al.

Journal of Inherited Metabolic Disease, 2017

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES et al.

Brain : a Journal of Neurology, 2016

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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."