Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R257_P258insFs
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SOX9

NM_000346.4:p.R257_P258insFs

Associated Papers

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

Wada Y et al.

American Journal of Medical Genetics. Part A, 2009

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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."