Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.G424D
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CFI

NM_000204.5:p.G424D

Associated Papers

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

Hallam TM et al.

Immunobiology, 2023

Effect of rare coding variants in the CFI gene on Factor I expression levels.

de Jong S et al.

Human Molecular Genetics, 2020

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFI

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

Greenbaum LA et al.

Kidney International, 2016

Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.

Noris M et al.

Blood, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Fremeaux-Bacchi V et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.

Fakhouri F et al.

Journal of the American Society of Nephrology : Jasn, 2010

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.

Bienaime F et al.

Kidney International, 2010

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