Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.S121Y
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CYP4V2

NM_207352.4:p.S121Y

Associated Papers

Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.

Li H et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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

Current perspectives in Bietti crystalline dystrophy.

García-García GP et al.

Clinical Ophthalmology (auckland, N.z.), 2019

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.

Katagiri S et al.

Ophthalmic Genetics, 0

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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."