Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.P53L
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CPOX

NM_000097.7:p.P53L

Associated Papers

Congenital erythropoietic porphyria: advances in pathogenesis and treatment.

Desnick RJ et al.

British Journal of Haematology, 2002

Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.

Xu W et al.

Human Mutation, 1996

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Fontanellas A et al.

European Journal of Human Genetics : Ejhg, 1996

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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."