Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.T403_T404insFs
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CYP1B1

NM_000104.4:p.T403_T404insFs

Associated Papers

Prenatal diagnosis of primary congenital glaucoma and histopathological features in a fetal globe with cytochrome p4501B1 mutations.

Rezaei Kanavi M et al.

European Journal of Ophthalmology, 2021

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.

Haddad A et al.

European Journal of Ophthalmology, 2021

Updates on the molecular genetics of primary congenital glaucoma (Review).

Ling C et al.

Experimental and Therapeutic Medicine, 2020

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

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

Coêlho REA et al.

Journal of Glaucoma, 2019

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.

Rashid M et al.

Molecular Vision, 2019

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Chouiter L et al.

Journal of Pediatric Genetics, 2017

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Lim SH et al.

American Journal of Ophthalmology, 2013

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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."