Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R444*
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CYP1B1

NM_000104.4:p.R444*

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

Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.

Ivanoshchuk DE et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2020

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Yu-Wai-Man C et al.

European Journal of Human Genetics : Ejhg, 2018

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

Grønskov K et al.

Journal of Glaucoma, 2016

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

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

Li N et al.

Experimental Eye Research, 2011

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Abu-Amero KK et al.

Molecular Vision, 2011

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

Colomb E et al.

Human Mutation, 2003

Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 0

CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.

Simões MJ et al.

Ophthalmic Genetics, 0

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