Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.M121V
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TBX22

NM_001109878.2:p.M121V

Associated Papers

Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas.

Geyer FC et al.

Nature Communications, 2018

29739933 (PubMed )
Supplement: 41467_2018_4128_MOESM5_ESM.xlsx › Supplementary_Data_3

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 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

TBX22 mutations are a frequent cause of cleft palate.

Marçano AC et al.

Journal of Medical Genetics, 2004

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

Kohlhase J et al.

Journal of Medical Genetics, 2003

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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."