Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.A236A
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OTX2

NM_172337.3:p.A236A

Associated Papers

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

Henderson RA et al.

European Journal of Human Genetics : Ejhg, 2007

Heterozygous mutations of OTX2 cause severe ocular malformations.

Ragge NK et al.

American Journal of Human Genetics, 2005

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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."