Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.E109_V110Splc
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CYP4V2

NM_207352.4:p.E109_V110Splc

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 › S3

Current perspectives in Bietti crystalline dystrophy.

García-García GP et al.

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

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM1_ESM.pdf

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Halford S et al.

Ophthalmology, 2014

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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."