Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R120C
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SOX9

NM_000346.4:p.R120C

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

39854231 (PubMed )
Supplement: pnas.2313978121.sapp.pdf

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

39168182 (PubMed )
Supplement: mmc1.docx

Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.

Wang C et al.

Aging, 2021

33428592 (PubMed )
Supplement: aging-13-202370-s002.xlsx › neoantigen_NvsE

Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.

Barone C et al.

Congenital Anomalies, 2014

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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."