Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.E173K
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CYP1B1

NM_000104.4:p.E173K

Associated Papers

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s014.xlsx › Sheet_1

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

Genetics and Glaucoma: the state of the art.

Tirendi S et al.

Frontiers in Medicine, 2023

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Shahid M et al.

Peerj, 2022

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Haddad A et al.

European Journal of Ophthalmology, 2021

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.

Ou Z et al.

Bioscience Reports, 2018

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Chouiter L et al.

Journal of Pediatric Genetics, 2017

CYP1B1 gene mutations with incomplete penetrance in a Chinese pedigree with primary congenital glaucoma: a case report and review of literatures.

Chen L et al.

International Journal of Clinical and Experimental Medicine, 2015

CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.

Chen X et al.

The British Journal of Ophthalmology, 2014

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

Li N et al.

Experimental Eye Research, 2011

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO et al.

Ophthalmic Genetics, 2011

Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Hilal L et al.

Molecular Vision, 2010

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

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

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

Chitsazian F et al.

The Journal of Molecular Diagnostics : Jmd, 2007

A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).

El-Ashry MF et al.

Journal of Glaucoma, 2007

Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma.

Berraho A et al.

Journal of Glaucoma, 0

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

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