Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.K1188del1
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CFH

NM_000186.4:p.K1188del1

Associated Papers

Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.

Duineveld C et al.

Transplantation, 2025

39049128 (PubMed )
Supplement: tpa-109-511-s001.pdf

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

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.

Glover EK et al.

Transplantation, 2023

36413152 (PubMed )
Supplement: tp-107-994-s001.xlsx › 2._Prophylactic_Eculizumab

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

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

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Bresin E et al.

Journal of the American Society of Nephrology : Jasn, 2013

Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness.

Edey MM et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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."