Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R468_K477ins3
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CYP1B1

NM_000104.4:p.R468_K477ins3

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

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.

Bolinches-Amorós A et al.

Stem Cell Research, 2018

Pluripotent Stem Cell-Based Approaches to Explore and Treat Optic Neuropathies.

Rabesandratana O et al.

Frontiers in Neuroscience, 2018

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E et al.

Molecular Vision, 2013

CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.

Simões MJ et al.

Ophthalmic Genetics, 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."