Varaico: Literature-Extracted Genetic Variants

Gene:C4BPA
Variant:p.K537insFs
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C4BPA

NM_000715.4:p.K537insFs

Associated Papers

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.

Nilsson SC et al.

European Journal of Immunology, 2010

Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Richards A et al.

Molecular Immunology, 2007

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

Esparza-Gordillo J et al.

Human Molecular Genetics, 2005

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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."