Varaico: Literature-Extracted Genetic Variants

Gene:CFHR1
Variant:p.E74E
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CFHR1

NM_002113.3:p.E74E

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

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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."