Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.Q144H
Back to variants list

CYP1B1

NM_000104.4:p.Q144H

Associated Papers

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

Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.

Gong B et al.

The British Journal of Ophthalmology, 2015

CYP1B1, a developmental gene with a potential role in glaucoma therapy.

Choudhary D et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2009

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

López-Garrido MP et al.

Molecular Vision, 2006

[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].

Koraszewska-Matuszewska B et al.

Klinika Oczna, 2004

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."