Varaico: Literature-Extracted Genetic Variants

Gene:UMPS
Variant:p.Q140R
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UMPS

NM_000373.4:p.Q140R

Associated Papers

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.

Del Caño-Ochoa F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."