Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.S138*
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OTX2

NM_172337.3:p.S138*

Associated Papers

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

Ramakrishnan P et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2024

The phenotypic spectrum associated with OTX2 mutations in humans.

Gregory LC et al.

European Journal of Endocrinology, 2021

The homeobox gene Otx2 in development and disease.

Beby F et al.

Experimental Eye Research, 2013

A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.

Gorbenko Del Blanco D et al.

European Journal of Endocrinology, 2012

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.

Schilter KF et al.

Clinical Genetics, 2011

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.

Ashkenazi-Hoffnung L et al.

Human Genetics, 2010

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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."