Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.K670T
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CFH

NM_000186.4:p.K670T

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

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

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero HM et al.

Kidney International, 2018

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