Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.M469V
Back to variants list

SOX9

NM_000346.4:p.M469V

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.

Zhao R et al.

World Journal of Orthopedics, 2025

Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.

Samarkhanova D et al.

Journal of Clinical Medicine, 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

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Guan B et al.

Frontiers in Oncology, 2022

35372080 (PubMed )
Supplement: Table_6.xlsx › table_S6

Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Jiang YZ et al.

Cell Research, 2021

32719455 (PubMed )
Supplement: 41422_2020_375_MOESM12_ESM.xlsx › Sheet1

A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.

Wu N et al.

Current Gene Therapy, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."