Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.S222_S223insFs
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SPAG5

NM_006461.4:p.S222_S223insFs

Associated Papers

Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.

de Rooij FW et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2009

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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."