Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.R400G
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CYP4V2

NM_207352.4:p.R400G

Associated Papers

Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.

Yang X et al.

Science China. Life Sciences, 2025

Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy.

Jia R et al.

Progress in Retinal and Eye Research, 2025

Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.

Li Q et al.

The British Journal of Ophthalmology, 2024

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