Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.F960delFs
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CFH

NM_000186.4:p.F960delFs

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

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

Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.

Wilson V et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2013

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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."