Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.G69E
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CFH

NM_000186.4:p.G69E

Associated Papers

The human factor H protein family - an update.

Sándor N et al.

Frontiers in Immunology, 2024

38410512 (PubMed )
Supplement: DataSheet_1.pdf

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

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFH

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Rare CFH mutations and early-onset age-related macular degeneration.

Hughes AE et al.

Acta Ophthalmologica, 2016

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

Raychaudhuri S et al.

Nature Genetics, 2011

22019782 (PubMed )
Supplement: NIHMS335193-supplement-1.pdf
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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."