Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.S58A
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CFH

NM_000186.4:p.S58A

Associated Papers

Late Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.

Glover EK et al.

Transplant International : Official Journal of the European Society for Organ Transplantation, 2025

41368132 (PubMed )
Supplement: Table1.xlsx › Data

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort

Identification of complement factor H variants that predispose to pre-eclampsia: A genetic and functional study.

Lokki AI et al.

Bjog : an International Journal of Obstetrics and Gynaecology, 2023

An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration.

Biggs RM et al.

Investigative Ophthalmology & Visual Science, 2022

36445700 (PubMed )
Supplement: iovs-63-12-30_s001.pdf

Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.

Farinha C et al.

Investigative Ophthalmology & Visual Science, 2022

35925583 (PubMed )
Supplement: iovs-63-9-5_s002.pdf

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

de Jong S et al.

Human Molecular Genetics, 2022

Analysis of hemopexin plasma levels in patients with age-related macular degeneration.

Lauwen S et al.

Molecular Vision, 2022

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

Lorés-Motta L et al.

American Journal of Human Genetics, 2021

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.

Wong EKS et al.

Frontiers in Immunology, 2020

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

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero HM et al.

Kidney International, 2018

Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.

Kersten E et al.

Jama Ophthalmology, 2017

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

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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."