Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.E93*
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SOX2

NM_003106.4:p.E93*

Associated Papers

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Mauri L et al.

European Journal of Medical Genetics, 2015

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

Schneider A et al.

American Journal of Medical Genetics. Part A, 2009

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

Zenteno JC et al.

Clinical Genetics, 2005

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

Hagstrom SA et al.

American Journal of Medical Genetics. Part A, 2005

SOX2 anophthalmia syndrome.

Ragge NK et al.

American Journal of Medical Genetics. Part A, 2005

Mutations in SOX2 cause anophthalmia.

Fantes J et al.

Nature Genetics, 2003

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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."