Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.V79M
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OTX2

NM_021728.4:p.V79M

Associated Papers

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Zaslavsky K et al.

Investigative Ophthalmology & Visual Science, 2025

41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable3

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

OTX2 Syndromes.

Li C et al.

Advances in Experimental Medicine and Biology, 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

Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.

Sun C et al.

Frontiers in Molecular Neuroscience, 2023

OTX2 mutation associated with severe myopia in a Canadian family.

Wangding S et al.

Ophthalmic Genetics, 2022

Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.

Abdalla-Elsayed ME et al.

Molecular Vision, 2017

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."