Varaico: Literature-Extracted Genetic Variants

Gene:C9
Variant:p.G126R
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C9

NM_001737.5:p.G126R

Associated Papers

Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration.

Grunin M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Connaughton DM et al.

Journal of Molecular Medicine (berlin, Germany), 2023

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

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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."