Varaico: Literature-Extracted Genetic Variants

Gene:CFHR2
Variant:p.Q211*
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CFHR2

NM_005666.4:p.Q211*

Associated Papers

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

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

Lorés-Motta L et al.

American Journal of Human Genetics, 2021

34260947 (PubMed )
Supplement: mmc2.xlsx › ST14

CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Zipfel PF et al.

Journal of the American Society of Nephrology : Jasn, 2020

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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."