Varaico: Literature-Extracted Genetic Variants

Gene:TBXT
Variant:p.W52C
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TBXT

NM_001366285.2:p.W52C

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

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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."