Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.I1169T
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CFH

NM_000186.4:p.I1169T

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

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

UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.

Wong SQ et al.

Cancer Research, 2015

26627015 (PubMed )
Supplement: 00085472can151877-sup-152397_1_supp_3130424_n439px.xlsx › Supplementary_Table_S7
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