Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.C327R
Back to variants list

CFI

NM_000204.5:p.C327R

Associated Papers

Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.

de Jong S et al.

Frontiers in Immunology, 2021

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

de Jong S et al.

Human Molecular Genetics, 2020

32510551 (PubMed )
Supplement: supp_table_3_ddaa114.xlsx › Sheet1

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

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

Diseases of complement dysregulation-an overview.

Wong EKS et al.

Seminars in Immunopathology, 2018

Making sense of the spectrum of glomerular disease associated with complement dysregulation.

Johnson SA et al.

Pediatric Nephrology (berlin, Germany), 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."