Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.P400S
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CYP1B1

NM_000104.4:p.P400S

Associated Papers

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

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.

Yang Y et al.

Genetic Testing and Molecular Biomarkers, 2017

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

López-Garrido MP et al.

Ophthalmology, 2013

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

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E et al.

Molecular Vision, 2009

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.

Choudhary D et al.

Pharmacogenetics and Genomics, 2008

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.

Dimasi DP et al.

Clinical Genetics, 2007

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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