Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.G125R
Back to variants list

CFI

NM_000204.5:p.G125R

Associated Papers

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

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

27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Tan PL et al.

Investigative Ophthalmology & Visual Science, 2017

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."