Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.A245V
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OTX2

NM_172337.3:p.A245V

Associated Papers

The homeobox gene Otx2 in development and disease.

Beby F et al.

Experimental Eye Research, 2013

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

Schilter KF et al.

Clinical Genetics, 2011

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

Dateki S et al.

The Journal of Clinical Endocrinology and Metabolism, 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."