Varaico: Literature-Extracted Genetic Variants

Gene:TBXT
Variant:p.R16L
Back to variants list

TBXT

NM_001366285.2:p.R16L

Associated Papers

Selective targeting of TBXT with DARPins identifies regulatory networks and therapeutic vulnerabilities in chordoma.

Umbaugh CS et al.

Science Advances, 2025

Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene.

Alila-Fersi O et al.

Gene, 2024

A mutation in TBXT causes congenital vertebral malformations in humans and mice.

Chen S et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024

Genomic analyses of wild argali, domestic sheep, and their hybrids provide insights into chromosome evolution, phenotypic variation, and germplasm innovation.

Li X et al.

Genome Research, 2022

Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China.

Feng X et al.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2021

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."