Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.D519V
Back to variants list

CFI

NM_000204.5:p.D519V

Associated Papers

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

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

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."