Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.E124delFs
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OTX2

NM_172337.3:p.E124delFs

Associated Papers

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

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Wyatt A et al.

Human Mutation, 2008

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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."