Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.A237E
Back to variants list

CYP1B1

NM_000104.4:p.A237E

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

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS et al.

Human Genetics, 2019

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

Chouiter L et al.

Journal of Pediatric Genetics, 2017

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

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

López-Garrido MP et al.

Ophthalmology, 2013

Molecular analysis of Italian patients with congenital glaucoma.

Giuffre' I

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."