Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.D332N
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CYP4V2

NM_207352.4:p.D332N

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

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

Ratra D et al.

Indian Journal of Ophthalmology, 2022

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

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

Yin X et al.

Experimental Eye Research, 2016

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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."