Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.M113T
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SOX9

NM_000346.4:p.M113T

Associated Papers

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Wang L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Wang L et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Mattos EP et al.

Genetics and Molecular Biology, 2015

25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf

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."