Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.Q91H
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OTX2

NM_021728.4:p.Q91H

Associated Papers

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

Riera M et al.

Molecular Genetics & Genomic Medicine, 2017

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Slavotinek AM et al.

Clinical Genetics, 2015

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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."