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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP4V2

Variant:p.K354delFs

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CYP4V2

NM_207352.4:p.K354delFs

hg38:chr4:186205268 GA>G

Associated Papers

Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.

Yang X et al.

Science China. Life Sciences, 2025

40637993 (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."