Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.R23S
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SPAG5

NM_006461.4:p.R23S

Associated Papers

Congenital erythropoietic porphyria: advances in pathogenesis and treatment.

Desnick RJ et al.

British Journal of Haematology, 2002

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

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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."