Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.C247G
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CFI

NM_000204.5:p.C247G

Associated Papers

Thrombotic microangiopathies assessment: mind the complement.

Blasco M et al.

Clinical Kidney Journal, 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

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

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Bresin E et al.

Journal of the American Society of Nephrology : Jasn, 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

New insights into postrenal transplant hemolytic uremic syndrome.

Zuber J et al.

Nature Reviews. Nephrology, 2011

Molecular characterization of Complement Factor I deficiency in two Spanish families.

Ponce-Castro IM et al.

Molecular Immunology, 2008

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