Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.Q50E
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C3

NM_000064.4:p.Q50E

Associated Papers

Propensity score-matched analysis of long-term outcomes for living kidney donation in alternative complement pathway diseases: a pilot study.

Caliskan Y et al.

Journal of Nephrology, 2023

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

Gerogianni A et al.

Frontiers in Immunology, 2023

Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.

de Jong S et al.

Frontiers in Immunology, 2021

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

de Jong S et al.

Human Molecular Genetics, 2020

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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."