Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.L112*
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CYP4V2

NM_207352.4:p.L112*

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

Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.

Wang J et al.

Signal Transduction and Targeted Therapy, 2024

38653979 (PubMed )
Supplement: 41392_2024_1806_MOESM2_ESM.docx

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

Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

Louati Y et al.

Ophthalmic Genetics, 2021

CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations.

Darki F et al.

Journal of Current Ophthalmology, 2019

31317096 (PubMed )
Supplement: mmc1.doc

Current perspectives in Bietti crystalline dystrophy.

García-García GP et al.

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

A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.

Song Y et al.

International Ophthalmology, 2013

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.

Xiao X et al.

Biochemical and Biophysical Research Communications, 2011

Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.

Kelly EJ et al.

Molecular Interventions, 2011

Clinical and molecular findings in three Japanese patients with crystalline retinopathy.

Jin ZB et al.

Japanese Journal of Ophthalmology, 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."