Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.L26L
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CD46

NM_172351.3:p.L26L

Associated Papers

A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis.

Tao J et al.

Bmc Nephrology, 2018

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Gleeson PJ et al.

Immunobiology, 2016

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Phillips EH et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.

Ermini L et al.

Molecular Immunology, 2012

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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."