Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.K354insFs
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CYP4V2

NM_207352.4:p.K354insFs

Associated Papers

Gene therapy for Bietti crystalline corneoretinal dystrophy: A phase 1/2 clinical trial.

Yang L et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026

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

Yang X et al.

Science China. Life Sciences, 2025

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

Inborn Errors of Metabolism: Bietti Crystalline Dystrophy.

Jenny LA et al.

Advances in Experimental Medicine and Biology, 2025

Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.

Xu Y et al.

Investigative Ophthalmology & Visual Science, 2024

39540859 (PubMed )
Supplement: iovs-65-13-27_s003.pdf

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

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

OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY.

Wang Y et al.

Retina (philadelphia, Pa.), 2023

36729610 (PubMed )
Supplement: retina-43-659-s001.xlsx › Sheet1

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

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

Structural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy.

Ratra D et al.

Indian Journal of Ophthalmology, 2022

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1

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

Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.

Meng XH et al.

Molecular Vision, 2019

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.

Yin X et al.

Experimental Eye Research, 2016

Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.

Tian R et al.

International Journal of Ophthalmology, 2015

Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.

Yin H et al.

Plos One, 2014

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.

Meng XH et al.

Molecular Vision, 2014

[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].

Cui Y et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003

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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."