Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.G329D
Back to variants list

CYP1B1

NM_000104.4:p.G329D

Associated Papers

Functional genomics of primary congenital glaucoma by pathway analysis and functional characterization of CYP1B1 mutations.

Faiq MA et al.

Vision Research, 2025

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

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS et al.

Human Genetics, 2019

Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.

Khafagy MM et al.

International Journal of Ophthalmology, 2019

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

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

MYOC and FOXC1 gene analysis in primary congenital glaucoma.

Tanwar M et al.

Molecular Vision, 2010

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.

Choudhary D et al.

Pharmacogenetics and Genomics, 2008

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.

Dimasi DP et al.

Clinical Genetics, 2007

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."