Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.W434R
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CYP1B1

NM_000104.4:p.W434R

Associated Papers

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

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.

Ou Z et al.

Bioscience Reports, 2018

In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.

Firasat S et al.

International Ophthalmology, 2018

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

Chouiter L et al.

Journal of Pediatric Genetics, 2017

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

Rauf B et al.

Human Genome Variation, 2016

CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.

Chen X et al.

The British Journal of Ophthalmology, 2014

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

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

Firasat S et al.

Molecular Vision, 2008

Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes.

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2007

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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."