Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R1215L
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CFH

NM_000186.4:p.R1215L

Associated Papers

Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.

Ni J et al.

Pediatric Nephrology (berlin, Germany), 2025

Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.

Khandelwal P et al.

Pediatric Nephrology (berlin, Germany), 2023

Clinical and Genetic Characteristics of Atypical Hemolytic Uremic Syndrome in Children: A Chinese Cohort Study.

Wu D et al.

Nephron, 2021

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Fidalgo T et al.

Research and Practice in Thrombosis and Haemostasis, 2017

Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center.

Maximiano C et al.

Jornal Brasileiro De Nefrologia, 0

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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."