Varaico: Literature-Extracted Genetic Variants

Gene:C9
Variant:p.R118W
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C9

NM_001737.5:p.R118W

Associated Papers

Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Shughoury A et al.

Genes, 2022

Genetic Risk in Families with Age-Related Macular Degeneration.

de Breuk A et al.

Ophthalmology Science, 2021

Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.

Kremlitzka M et al.

Human Molecular Genetics, 2018

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

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.

Geerlings MJ et al.

Jama Ophthalmology, 2017

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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."