Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.A179fs
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CYP1B1

NM_000104.4:p.A179fs

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

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Stingl JV et al.

Journal of Clinical Medicine, 2021

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Lang E et al.

Translational Vision Science & Technology, 2020

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.

Thanikachalam S et al.

Genes, 2020

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

Grønskov K et al.

Journal of Glaucoma, 2016

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Reis LM et al.

Clinical Genetics, 2016

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

Reis LM et al.

Molecular Vision, 2016

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Rodrigues R et al.

Ophthalmology. Glaucoma, 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."