Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.P442delFs
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CYP1B1

NM_000104.4:p.P442delFs

Associated Papers

Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.

Kaushik S et al.

American Journal of Ophthalmology, 2022

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

Ling C et al.

Experimental and Therapeutic Medicine, 2020

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Waryah YM et al.

International Journal of Ophthalmology, 2019

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

Rashid M et al.

Molecular Vision, 2019

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Rauf B et al.

Human Genome Variation, 2016

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Reis LM et al.

Molecular Vision, 2016

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Firasat S et al.

Molecular Vision, 2008

Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.

Zahid T et al.

Pakistan Journal of Medical Sciences, 0

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 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."