Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.G397R
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CFH

NM_000186.4:p.G397R

Associated Papers

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

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Hemolytic Uremic Syndrome in Pregnancy and Postpartum.

Bruel A et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 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

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

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

Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.

Fakhouri F et al.

Journal of the American Society of Nephrology : Jasn, 2010

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