Varaico: Literature-Extracted Genetic Variants

Gene:CFB
Variant:p.R679W
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CFB

NM_001710.6:p.R679W

Associated Papers

CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis.

Piras R et al.

Frontiers in Genetics, 2021

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

Diseases of complement dysregulation-an overview.

Wong EKS et al.

Seminars in Immunopathology, 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."