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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP4V2

Variant:p.S267fs

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CYP4V2

NM_207352.4:p.S267fs

hg38:chr4:186199081 A>AN

Associated Papers

Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.

Kumar A et al.

American Journal of Ophthalmology Case Reports, 2025

40236510 (PubMed )

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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."