Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R117W
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CYP1B1

NM_000104.4:p.R117W

Associated Papers

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Genetic insight into cytochrome P450 in Chinese from the Chinese Millionome Database.

Qi G et al.

Basic & Clinical Pharmacology & Toxicology, 2020

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

Banerjee A et al.

Plos One, 2016

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

Li N et al.

Experimental Eye Research, 2011

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 2011

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Chavarria-Soley G et al.

Human Mutation, 2008

Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

Bagiyeva S et al.

Molecular Vision, 2007

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

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

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