Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.L90del1
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CYP4V2

NM_207352.4:p.L90del1

Associated Papers

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.

Fan X et al.

Scientific Reports, 2025

OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY.

Wang Y et al.

Retina (philadelphia, Pa.), 2023

36729610 (PubMed )
Supplement: retina-43-659-s001.xlsx › Sheet1

Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.

Meng XH et al.

Molecular Vision, 2019

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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."