Varaico: Literature-Extracted Genetic Variants

Gene:COL6A5
Variant:p.F1672V
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COL6A5

NM_001278298.2:p.F1672V

Associated Papers

Whole-exome sequencing screening for candidate genes and variants associated with primary sporadic keratoconus in Chinese patients.

Song C et al.

Experimental Eye Research, 2024

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.

Froukh T et al.

Bmc Medical Genetics, 2020

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