Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.R928Q
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C5

NM_001735.3:p.R928Q

Associated Papers

Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.

Cao W et al.

Blood Vessels, Thrombosis & Hemostasis, 2024

A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.

Butbul Aviel Y et al.

Rheumatology (oxford, England), 2021

Long lasting neutralization of C5 by SKY59, a novel recycling antibody, is a potential therapy for complement-mediated diseases.

Fukuzawa T et al.

Scientific Reports, 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."