Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.S485F
Back to variants list

CYP1B1

NM_000104.4:p.S485F

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

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

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

Haddad A et al.

European Journal of Ophthalmology, 2021

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS et al.

Human Genetics, 2019

Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.

Medina-Trillo C et al.

Acta Ophthalmologica, 2016

Congenital aniridia: etiology, manifestations and management.

Samant M et al.

Expert Review of Ophthalmology, 2016

A novel CYP1B1 mutation with congenital glaucoma and total aniridia.

Alzuhairy S et al.

Ophthalmic Genetics, 2015

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO et al.

Ophthalmic Genetics, 2011

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."