Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.W216C
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CD46

NM_172351.3:p.W216C

Associated Papers

Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.

Piras R et al.

Frontiers in Medicine, 2020

Germline mutations in the alternative pathway of complement predispose to HELLP syndrome.

Vaught AJ et al.

Jci Insight, 2018

Atypical hemolytic uremic syndrome recurrence after kidney transplantation.

Matar D et al.

Transplantation, 2014

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

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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."