Varaico: Literature-Extracted Genetic Variants

Gene:CFB
Variant:p.R74H
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CFB

NM_001710.6:p.R74H

Associated Papers

Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria.

Wu J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy.

Chen X et al.

Journal of Nephrology, 2023

Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy.

Korzycka J et al.

The American Journal of Case Reports, 2022

Association between thrombotic microangiopathy and activated alternative complement pathway in malignant nephrosclerosis.

Zhang Y et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2020

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

[Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome].

Yi CL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017

Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.

Momozawa Y et al.

Human Molecular Genetics, 2016

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.

Zhang T et al.

American Journal of Nephrology, 2016

Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review.

Chhakchhuak M et al.

Indian Journal of Nephrology, 0

A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and Systematic Review.

Peng W et al.

Case Reports in Nephrology and Dialysis, 0

41064627 (PubMed )
Supplement: Supplementary_material-Suppl.10-s10.xlsx › Supplementary_table_8
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