Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.N519D
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CYP1B1

NM_000104.4:p.N519D

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

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

Haddad A et al.

European Journal of Ophthalmology, 2021

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS et al.

Human Genetics, 2019

Mitochondrial transfer RNA variants and primary congenital glaucoma.

Yi QY et al.

Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2016

Pharmacogenomics of antimicrobial agents.

Aung AK et al.

Pharmacogenomics, 2014

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO et al.

Ophthalmic Genetics, 2011

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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."