Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.R44delFs
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OTX2

NM_021728.4:p.R44delFs

Associated Papers

Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.

Mathot L et al.

Cancer Research, 2017

28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Sergouniotis PI et al.

Journal of Human Genetics, 2015

The homeobox gene Otx2 in development and disease.

Beby F et al.

Experimental Eye Research, 2013

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N et al.

Journal of Medical Genetics, 2012

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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."