Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R53P
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CFH

NM_000186.4:p.R53P

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

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."