Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.T98I
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CD46

NM_172351.3:p.T98I

Associated Papers

Genetic and functional analysis of two missense mutations in CD46 predispose to postpartum atypical hemolytic uremic syndrome.

Wu H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.

Tseng MH et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

Genetic analysis of the complement pathway in C3 glomerulopathy.

Zhao W et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018

Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

Fujisawa M et al.

Clinical and Experimental Nephrology, 2018

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.

Zhang T et al.

American Journal of Nephrology, 2016

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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."