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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX2

Variant:p.Y160insFs

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SOX2

NM_003106.4:p.Y160insFs

hg38:chr3:181712838 T>TA

Associated Papers

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Gorman KM et al.

American Journal of Medical Genetics. Part A, 2016

27427475 (PubMed )

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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."