Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.S211_E212insFs
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SPAG5

NM_006461.4:p.S211_E212insFs

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

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.

Xu W et al.

The Journal of Clinical Investigation, 1995

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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."