Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.E134*
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SOX9

NM_000346.4:p.E134*

Associated Papers

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.

Calvache CA et al.

Frontiers in Pediatrics, 2022

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

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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."