Varaico: Literature-Extracted Genetic Variants

Gene:UROS
Variant:p.A69E
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UROS

NM_000375.3:p.A69E

Associated Papers

Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.

ben Bdira F et al.

Human Molecular Genetics, 2014

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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."