Varaico: Literature-Extracted Genetic Variants

Gene:CFB
Variant:p.K323Q
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CFB

NM_001710.6:p.K323Q

Associated Papers

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy.

Korzycka J et al.

The American Journal of Case Reports, 2022

Atypical hemolytic uremic syndrome associated with a factor B genetic variant and fluid-phase complement activation: an exception to the rule?

Noris M et al.

Kidney International, 2020

Diabetic ketoacidosis presenting with atypical hemolytic uremic syndrome associated with a variant of complement factor B in an adult: a case report.

Zhu Z et al.

Journal of Medical Case Reports, 2016

An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.

Campistol JM et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2015

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

Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.

Gilbert RD et al.

Pediatric Nephrology (berlin, Germany), 2013

Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway.

Rodríguez de Córdoba S et al.

Biochimica Et Biophysica Acta, 2011

Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review.

Chhakchhuak M et al.

Indian Journal of Nephrology, 0

A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.

Peng W et al.

Case Reports in Nephrology and Dialysis, 0

41064627 (PubMed )
Supplement: Supplementary_material-Suppl.10-s10.xlsx › Supplementary_table_8
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