Varaico: Literature-Extracted Genetic Variants

Gene:TBXT
Variant:p.G113fs
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TBXT

NM_001366285.2:p.G113fs

Associated Papers

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

Alila-Fersi O et al.

Gene, 2024

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1

T (brachyury) is linked to a Mendelian form of neural tube defects in humans.

Shaheen R et al.

Human Genetics, 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."