Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.Q37*
Back to variants list

CYP1B1

NM_000104.4:p.Q37*

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

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Waryah YM et al.

International Journal of Ophthalmology, 2019

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Rauf B et al.

Human Genome Variation, 2016

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

Li N et al.

Experimental Eye Research, 2011

Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma.

Suri F et al.

Ophthalmology, 2009

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Firasat S et al.

Molecular Vision, 2008

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."