Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.P370L
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CYP1B1

NM_000104.4:p.P370L

Associated Papers

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.

Xie JJ et al.

Ophthalmic Genetics, 2022

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

Ou Z et al.

Bioscience Reports, 2018

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

Yao YH et al.

International Journal of Ophthalmology, 2018

A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients.

Hamanaka T et al.

Investigative Ophthalmology & Visual Science, 2017

Structural basis for misfolding in myocilin-associated glaucoma.

Donegan RK et al.

Human Molecular Genetics, 2015

Comprehensive analysis of myocilin variants in east Indian POAG patients.

Banerjee D et al.

Molecular Vision, 2012

Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.

Rose R et al.

Molecular Vision, 2011

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

Pasutto F et al.

Investigative Ophthalmology & Visual Science, 2010

Contributions of MYOC and CYP1B1 mutations to JOAG.

Bayat B et al.

Molecular Vision, 2008

Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.

Messina-Baas OM et al.

Ophthalmic Research, 2007

Genetic dissection of myocilin glaucoma.

Gong G et al.

Human Molecular Genetics, 2004

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Vincent AL et al.

American Journal of Human Genetics, 2002

A cellular assay distinguishes normal and mutant TIGR/myocilin protein.

Zhou Z et al.

Human Molecular Genetics, 1999

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 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."