Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.D283G
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CFI

NM_000204.5:p.D283G

Associated Papers

Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.

Ni J et al.

Pediatric Nephrology (berlin, Germany), 2025

Pediatric Immunodeficiency Caused by Complement Classical and Alternative Pathway Defects Due to a Homozygous CFI Variant: A Case Report.

Wei J et al.

Cureus, 2025

Overlapping Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy with Mutation in CFI in a Japanese Patient: A Case Report.

Osawa K et al.

Internal Medicine (tokyo, Japan), 2024

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM et al.

Immunobiology, 2023

Clinical and Genetic Characteristics of Atypical Hemolytic Uremic Syndrome in Children: A Chinese Cohort Study.

Wu D et al.

Nephron, 2021

Generation and Characterization of Mouse Models of C3 Glomerulonephritis With CFI D288G and P467S Mutations.

Song H et al.

Frontiers in Physiology, 2021

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

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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."