Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q312*
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SOX9

NM_000346.4:p.Q312*

Associated Papers

Recurrent, truncating SOX9 mutations are associated with SOX9 overexpression, KRAS mutation, and TP53 wild type status in colorectal carcinoma.

Javier BM et al.

Oncotarget, 2016

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.

Bernard P et al.

Human Molecular Genetics, 2003

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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."