Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.W1183C
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CFH

NM_000186.4:p.W1183C

Associated Papers

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

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

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFH

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Structural basis for sialic acid-mediated self-recognition by complement factor H.

Blaum BS et al.

Nature Chemical Biology, 2015

An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.

Campistol JM et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 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

Managing and preventing atypical hemolytic uremic syndrome recurrence after kidney transplantation.

Noris M et al.

Current Opinion in Nephrology and Hypertension, 2013

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Atypical hemolytic uremic syndrome.

Loirat C et al.

Orphanet Journal of Rare Diseases, 2011

New insights into postrenal transplant hemolytic uremic syndrome.

Zuber J et al.

Nature Reviews. Nephrology, 2011

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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."