Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.S99insFs
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SOX9

NM_000346.4:p.S99insFs

Associated Papers

Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.

Okamoto T et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."