Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.V133insFs
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SPAG5

NM_006461.4:p.V133insFs

Associated Papers

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

Shady AA et al.

British Journal of Haematology, 2002

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.

Solis C et al.

The Journal of Clinical Investigation, 2001

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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."