Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.V126insFs
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CYP1B1

NM_000104.4:p.V126insFs

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

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E et al.

Molecular Vision, 2009

Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.

Reddy AB et al.

Investigative Ophthalmology & Visual Science, 2003

Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

Panicker SG et al.

Investigative Ophthalmology & Visual Science, 2002

Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Faiq M et al.

Journal of Current Glaucoma Practice, 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."