Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.F960fs
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CFH

NM_000186.4:p.F960fs

Associated Papers

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."