Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.C255Y
Back to variants list

CFI

NM_000204.5:p.C255Y

Associated Papers

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

de Jong S et al.

Human Molecular Genetics, 2022

34508573 (PubMed )
Supplement: supp_table_1_ddab256.xlsx › individual_variants

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

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

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Genetic, molecular and functional analyses of complement factor I deficiency.

Nilsson SC et al.

European Journal of Immunology, 2009

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."