Varaico: Literature-Extracted Genetic Variants

Gene:SOX18
Variant:p.R74P
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SOX18

NM_018419.3:p.R74P

Associated Papers

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Williamson KA et al.

Human Molecular Genetics, 2006

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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."