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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP1B1

Variant:p.D116_A121del0

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CYP1B1

NM_000104.4:p.D116_A121del0

hg38:chr2:38075025 AGGCGAAGGCCGGCCGGTC>A

Associated Papers

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

Grønskov K et al.

Journal of Glaucoma, 2016

27820421 (PubMed )

Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities.

Kaginalkar A et al.

Taiwan Journal of Ophthalmology, 0

38249508 (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."