Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.T46A
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CFH

NM_000186.4:p.T46A

Associated Papers

Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.

Yaylacioğlu Tuncay F et al.

Turkish Journal of Medical Sciences, 2025

41234456 (PubMed )
Supplement: Supplementary._Table_2.xlsx › Sayfa1

Whole-exome sequencing in searching for novel variants associated with the development of high altitude pulmonary edema.

Chen M et al.

Gene, 2023

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

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Multiple gene dysfunctions lead to high cancer-susceptibility: evidences from a whole-exome sequencing study.

He ML et al.

American Journal of Cancer Research, 2011

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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."