Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.Y1177C
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CFH

NM_000186.4:p.Y1177C

Associated Papers

Clinical presentation and management of atypical hemolytic uremic syndrome in Latin America: a narrative review of the literature.

Sepúlveda Palamara RA et al.

Expert Review of Hematology, 2024

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

Atypical Hemolytic Uremic Syndrome in Children Aged <2 Years.

Çakar N et al.

Nephron, 2018

Midterm Outcomes of 12 Renal Transplant Recipients Treated With Eculizumab to Prevent Atypical Hemolytic Syndrome Recurrence.

Levi C et al.

Transplantation, 2017

Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.

Besbas N et al.

Bmc Nephrology, 2017

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

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Fremeaux-Bacchi V et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab.

Besbas N et al.

Pediatric Nephrology (berlin, Germany), 2013

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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."