Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.V1168E
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CFH

NM_000186.4:p.V1168E

Associated Papers

Genetic investigation of Nordic patients with complement-mediated kidney diseases.

Rydberg V et al.

Frontiers in Immunology, 2023

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

de Jong S et al.

Human Molecular Genetics, 2022

34508573 (PubMed )
Supplement: supp_table_1_ddab256.xlsx › individual_variants

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

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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."