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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX2

Variant:p.A191A

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SOX2

NM_003106.4:p.A191A

hg38:chr3:181712933 A>G

Associated Papers

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X et al.

Molecular Vision, 2009

20057906 (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."