Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R27_R28delFs
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CFH

NM_000186.4:p.R27_R28delFs

Associated Papers

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

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

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

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

Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

de Córdoba SR et al.

Clinical and Experimental Immunology, 2008

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