Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.A60_Q61insG
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SOX2

NM_003106.4:p.A60_Q61insG

Associated Papers

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

McCabe MJ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.

Kelberman D et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."