Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.D524V
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CFI

NM_000204.5:p.D524V

Associated Papers

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

Hallam TM et al.

Immunobiology, 2023

Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency.

Naesens L et al.

The Journal of Allergy and Clinical 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

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

Shields AM et al.

Frontiers in Immunology, 2019

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

El Sissy C et al.

Frontiers in Immunology, 2019

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

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C et al.

Journal of Clinical Immunology, 2017

Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.

Haerynck F et al.

Journal of Clinical Immunology, 2013

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

Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis.

Broderick L et al.

Journal of Clinical Immunology, 2013

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

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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."