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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP4V2

Variant:p.E72*

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CYP4V2

NM_207352.4:p.E72*

hg38:chr4:186192037 G>T

Associated Papers

Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

Louati Y et al.

Ophthalmic Genetics, 2021

34310258 (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."