Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R394*
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SOX9

NM_000346.4:p.R394*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

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

Dominant-negative SOX9 mutations in campomelic dysplasia.

Csukasi F et al.

Human Mutation, 2019

Genetic Causes of Rare Pediatric Ovarian Tumors.

Plevová P et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA et al.

Plos Genetics, 2018

29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b

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."