Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R53S
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CFH

NM_000186.4:p.R53S

Associated Papers

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.

Wong EKS et al.

Frontiers in Immunology, 2020

Potentiation of complement regulator factor H protects human endothelial cells from complement attack in aHUS sera.

Pouw RB et al.

Blood Advances, 2019

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero HM et al.

Kidney International, 2018

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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."