Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R53G
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CFH

NM_000186.4:p.R53G

Associated Papers

Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.

Seddon JM et al.

Investigative Ophthalmology & Visual Science, 2024

Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.

Wagner EK et al.

Scientific Reports, 2016

Role of Factor H and Related Proteins in Regulating Complement Activation in the Macula, and Relevance to Age-Related Macular Degeneration.

Clark SJ et al.

Journal of Clinical Medicine, 2015

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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."