Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.E72fs
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CYP4V2

NM_207352.4:p.E72fs

Associated Papers

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 and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

Jiao X et al.

European Journal of Human Genetics : Ejhg, 2017

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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."