Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Q339*
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SOX9

NM_000346.4:p.Q339*

Associated Papers

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel

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."