Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.G269S
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CFI

NM_000204.5:p.G269S

Associated Papers

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report.

Wen J et al.

Bmc Nephrology, 2018

Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.

Thergaonkar RW et al.

Clinical and Experimental Nephrology, 2018

Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome.

Greenbaum LA et al.

Kidney International, 2016

Thrombotic microangiopathy without renal involvement: two novel mutations in complement-regulator genes.

Peyvandi F et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Discontinuation of eculizumab treatment in atypical hemolytic uremic syndrome: an update.

Ardissino G 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."