Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.A158V
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SOX9

NM_000346.4:p.A158V

Associated Papers

Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.

Li S et al.

Journal of Advanced Research, 2025

40436141 (PubMed )
Supplement: 1-s2.0-S2090123225003625-mmc2.xlsx › Table_S4

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

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

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Zawerton A et al.

American Journal of Human Genetics, 2019

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.

Karaer K et al.

Turk Pediatri Arsivi, 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."