Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.E109_V110Splc
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CYP4V2

NM_207352.4:p.E109_V110Splc

Associated Papers

Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.

Jarrar YB et al.

Annals of Human Genetics, 2020

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Halford S et al.

Ophthalmology, 2014

Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.

García-García GP et al.

Cornea, 2013

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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."