Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.G134_T135insFs
Back to variants list

OTX2

NM_021728.4:p.G134_T135insFs

Associated Papers

The homeobox gene Otx2 in development and disease.

Beby F et al.

Experimental Eye Research, 2013

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.

Tajima T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2013

Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).

Alatzoglou KS et al.

Indian Journal of Pediatrics, 2012

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

McCabe MJ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

Dateki S et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."