Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.M59_A60insGG
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SOX2

NM_003106.4:p.M59_A60insGG

Associated Papers

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

Schneider A et al.

American Journal of Medical Genetics. Part A, 2009

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Pedace L et al.

European Journal of Medical Genetics, 0

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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."