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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX2

Variant:p.Y171*

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SOX2

NM_003106.4:p.Y171*

hg38:chr3:181712873 C>A

Associated Papers

Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant.

Kidd J et al.

Prenatal Diagnosis, 2023

37529968 (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."