Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.L22H
Back to variants list

CYP4V2

NM_207352.4:p.L22H

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

Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.

Zhao G et al.

Molecular Vision, 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

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

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

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

Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.

Raoof N et al.

Clinical & Experimental Ophthalmology, 2017

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

Yin X et al.

Experimental Eye Research, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."