Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R145_A148delFs
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CYP1B1

NM_000104.4:p.R145_A148delFs

Associated Papers

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.

Cronbach N et al.

Pharmaceuticals (basel, Switzerland), 2025

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS et al.

Human Genetics, 2019

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

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.

Khan AO et al.

Ophthalmic Genetics, 2014

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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."