Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R117P
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CYP1B1

NM_000104.4:p.R117P

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

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.

Kabra M et al.

Human Genetics, 2017

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

Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics.

Hollander DA et al.

American Journal of Ophthalmology, 2006

Genotype and phenotype correlations in congenital glaucoma.

Hollander DA et al.

Transactions of the American Ophthalmological Society, 2006

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

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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."