Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.Q19*
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CYP1B1

NM_000104.4:p.Q19*

Associated Papers

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Blue EE et al.

Birth Defects Research, 2024

CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.

Coêlho REA et al.

Journal of Glaucoma, 2019

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

López-Garrido MP et al.

Ophthalmology, 2013

A clinical and molecular genetics study of primary congenital glaucoma in South Korea.

Suh W et al.

The British Journal of Ophthalmology, 2012

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

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ et al.

Molecular Vision, 2011

CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis.

Della Paolera M et al.

Journal of Glaucoma, 2010

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

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2006

16384942 (PubMed )
Supplement: table_s2.pdf

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

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Rodrigues R et al.

Ophthalmology. Glaucoma, 0

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