Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.K1186T
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CFH

NM_000186.4:p.K1186T

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

Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

Bruel A et al.

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

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

Post-partum atypical haemolytic-uraemic syndrome treated with eculizumab: terminal complement activity assessment in clinical practice.

Delmas Y et al.

Clinical Kidney Journal, 2013

Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation.

Le Quintrec M et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2008

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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."