Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.L1207R
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CFH

NM_000186.4:p.L1207R

Associated Papers

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

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

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

Saunders RE et al.

Human Mutation, 2007

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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."