Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.Y81*
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CYP1B1

NM_000104.4:p.Y81*

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

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

Khafagy MM et al.

International Journal of Ophthalmology, 2019

Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients.

Yazdani S et al.

Journal of Glaucoma, 2016

A clinical and molecular genetics study of primary congenital glaucoma in South Korea.

Suh W et al.

The British Journal of Ophthalmology, 2012

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

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ et al.

Molecular Vision, 2011

Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.

Narooie-Nejad M et al.

Molecular Vision, 2009

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

Chitsazian F et al.

The Journal of Molecular Diagnostics : Jmd, 2007

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."