Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.W93*
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CYP4V2

NM_207352.4:p.W93*

Associated Papers

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Lopez-de la Rosa A et al.

Orphanet Journal of Rare Diseases, 2024

Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy.

Cheloni R et al.

Eye (london, England), 2024

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.

Hanany M et al.

Translational Vision Science & Technology, 2023

36795063 (PubMed )
Supplement: tvst-12-2-27_s002.xlsx › S2
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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."