Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.R120W
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TBX22

NM_001109878.2:p.R120W

Associated Papers

Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.

Jiang RS et al.

Archives of Medical Science : Ams, 2012

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

Kantaputra PN et al.

Journal of Dental Research, 2011

Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins.

Sen A et al.

Molecular Genetics and Genomics : Mgg, 2010

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.

Suphapeetiporn K et al.

Clinical Genetics, 2007

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

Andreou AM et al.

American Journal of Human Genetics, 2007

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Chaabouni M et al.

Clinical Dysmorphology, 2005

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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."