Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.G1116R
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C3

NM_000064.4:p.G1116R

Associated Papers

Stepwise ABC system for classification of any type of genetic variant.

Houge G et al.

European Journal of Human Genetics : Ejhg, 2022

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.

Pollack S et al.

Frontiers in Immunology, 2021

Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

Forneris F et al.

The Embo Journal, 2016

27013439 (PubMed )
Supplement: EMBJ-35-1133-s001.pdf

Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis.

Brackman D et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011

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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."