Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.E79K
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OTX2

NM_172337.3:p.E79K

Associated Papers

Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.

Lee YJ et al.

Stem Cell Reviews and Reports, 2025

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.

Ramakrishnan P et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2024

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant.

Zhang D et al.

Stem Cell Research, 2024

The phenotypic spectrum associated with OTX2 mutations in humans.

Gregory LC et al.

European Journal of Endocrinology, 2021

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W et al.

Investigative Ophthalmology & Visual Science, 2015

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

Vincent A et al.

Journal of Medical 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."