Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.C280*
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CYP1B1

NM_000104.4:p.C280*

Associated Papers

Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

Fuse N et al.

Japanese Journal of Ophthalmology, 2024

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.

Al-Saei O et al.

Bmc Genomics, 2024

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Jackson D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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

Li N et al.

Experimental Eye Research, 2011

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K et al.

Middle East African Journal of Ophthalmology, 2011

A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.

Chakrabarti S et al.

Human Molecular Genetics, 2010

Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

Fuse N et al.

Japanese Journal of Ophthalmology, 2010

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

Alfadhli S et al.

American Journal of Ophthalmology, 2006

Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2006

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

Sitorus R et al.

Journal of Medical Genetics, 2003

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.

Zahid T et al.

Pakistan Journal of Medical Sciences, 0

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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."