Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.G243D
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CFI

NM_000204.5:p.G243D

Associated Papers

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Tzoumas N et al.

Human Molecular Genetics, 2022

35285476 (PubMed )
Supplement: supplemental_table_4_ddac060.pdf

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B

Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies.

Servais A et al.

Kidney International, 2012

Anti-glomerular basement membrane glomerulonephritis and thrombotic microangiopathy in first degree relatives: a case report.

Idorn T et al.

Bmc Nephrology, 2012

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Genetics and complement in atypical HUS.

Kavanagh D et al.

Pediatric Nephrology (berlin, Germany), 2010

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.

Nilsson SC et al.

European Journal of Immunology, 2010

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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."