Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.G650V
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C5

NM_001735.3:p.G650V

Associated Papers

Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review.

Lizama-Muñoz A et al.

Frontiers in Immunology, 2025

An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration.

Biggs RM et al.

Investigative Ophthalmology & Visual Science, 2022

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

Making sense of the spectrum of glomerular disease associated with complement dysregulation.

Johnson SA et al.

Pediatric Nephrology (berlin, Germany), 2014

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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."