Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R1206C
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CFH

NM_000186.4:p.R1206C

Associated Papers

Epidemiology, Management, and Outcome of Atypical Hemolytic Uremic Syndrome in an Omani Cohort.

Al Riyami D et al.

Oman Medical Journal, 2023

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.

Glover EK et al.

Transplantation, 2023

36413152 (PubMed )
Supplement: tp-107-994-s001.xlsx › 1._Not_treated_with_Eculizumab

Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.

Bouwmeester RN et al.

Kidney International Reports, 2023

36644349 (PubMed )
Supplement: mmc1.pdf

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Gleeson PJ et al.

Immunobiology, 2016

Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission.

Volokhina EB et al.

Clinical and Experimental Immunology, 2015

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

Rodriguez E et al.

Bioscience Reports, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.

Westra D et al.

Journal of Human Genetics, 2012

Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).

Westra D et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010

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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."