Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.V21E
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COX8A

NM_004074.3:p.V21E

Associated Papers

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."