Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.P402S
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CFI

NM_000204.5:p.P402S

Associated Papers

Functional evaluation of complement factor I variants by immunoassays and SDS-PAGE.

Gerogianni A et al.

Frontiers in Immunology, 2023

Effect of rare coding variants in the CFI gene on Factor I expression levels.

de Jong S et al.

Human Molecular Genetics, 2020

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 genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.

Crovetto F et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2012

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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."