Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.K124delFs
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SOX2

NM_003106.4:p.K124delFs

Associated Papers

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.

Ashkenazi-Hoffnung L et al.

Human Genetics, 2010

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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."