Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.A425V
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CFH

NM_000186.4:p.A425V

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

de Jong S et al.

Human Molecular Genetics, 2022

34508573 (PubMed )
Supplement: supp_table_1_ddab256.xlsx › individual_variants

Analysis of hemopexin plasma levels in patients with age-related macular degeneration.

Lauwen S et al.

Molecular Vision, 2022

Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

de Breuk A et al.

Jama Ophthalmology, 2021

34647987 (PubMed )
Supplement: jamaophthalmol-e214102-s001.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."