Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.E1198V
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CFH

NM_000186.4:p.E1198V

Associated Papers

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

Martín Merinero H et al.

Blood, 2021

Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

Fujisawa M et al.

Clinical and Experimental Nephrology, 2018

Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation.

Kim S et al.

Journal of Korean Medical Science, 2018

Atypical hemolytic uremic syndrome: Korean pediatric series.

Lee JM et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

[Development and application of a new ADAMTS13 assay for TTP diagnosis].

Kokame K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

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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."