Varaico: Literature-Extracted Genetic Variants

Gene:CFB
Variant:p.E566G
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CFB

NM_001710.6:p.E566G

Associated Papers

Eculizumab Rescue Therapy in Patients With Recurrent Atypical Hemolytic Uremic Syndrome After Kidney Transplantation.

Duineveld C et al.

Kidney International Reports, 2023

Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab.

Alfakeeh K et al.

Pediatric Nephrology (berlin, Germany), 2017

C3 glomerulonephritis associated with complement factor B mutation.

Sethi S et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015

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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."