Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.R127W
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OTX2

NM_021728.4:p.R127W

Associated Papers

Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.

Zhu Y et al.

Stem Cell Reviews and Reports, 2025

Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson's disease.

Zhao Y et al.

Chinese Medical Journal, 2024

37341647 (PubMed )
Supplement: cm9-137-450-s001.pdf

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

Sun C et al.

Frontiers in Molecular Neuroscience, 2023

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

Kałużna M et al.

Genes, 2021

34198905 (PubMed )
Supplement: genes-12-00868-s001.zip › genes-1238540-supplementary.xlsx › Existing_variants

Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.

Matsumoto R et al.

The Journal of Clinical Investigation, 2020

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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."