Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.K82R
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CFH

NM_000186.4:p.K82R

Associated Papers

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-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

Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation.

Fakhouri F et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2017

Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer.

Yu XJ et al.

Ebiomedicine, 2015

26288819 (PubMed )
Supplement: mmc6.xlsx › Sheet1
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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."