Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.S28W
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CYP1B1

NM_000104.4:p.S28W

Associated Papers

Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.

Milla E et al.

Plos One, 2024

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

A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

Reis LM et al.

Ophthalmic Genetics, 2015

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

López-Garrido MP et al.

Clinical Genetics, 2010

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

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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."