Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.I49V
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CFH

NM_000186.4:p.I49V

Associated Papers

Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.

Farinha C et al.

Investigative Ophthalmology & Visual Science, 2022

35925583 (PubMed )
Supplement: iovs-63-9-5_s002.pdf

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_S3.xlsx › CFH

Geographic distribution of rare variants associated with age-related macular degeneration.

Geerlings MJ et al.

Molecular Vision, 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."