Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.L87L
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CD46

NM_172351.3:p.L87L

Associated Papers

Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair.

Couzi L et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008

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."