Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.E150*
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SOX9

NM_000346.4:p.E150*

Associated Papers

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.

Marzuki NS et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › SOX9.Ion

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

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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."