Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.K386T
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CYP4V2

NM_207352.4:p.K386T

Associated Papers

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

A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy.

Yokoi Y et al.

Case Reports in Ophthalmology, 2011

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

Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.

Lee KY et al.

Investigative Ophthalmology & Visual Science, 2005

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."