Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.N63delFs
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SOX2

NM_003106.4:p.N63delFs

Associated Papers

Parent-of-origin effects in SOX2 anophthalmia syndrome.

Osborne RJ et al.

Molecular Vision, 2011

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Schneider A et al.

American Journal of Medical Genetics. Part A, 2009

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Bakrania P et al.

The British Journal of Ophthalmology, 2007

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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."