Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.P183L
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TBX22

NM_001109878.2:p.P183L

Associated Papers

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

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

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.

Ichikawa E et al.

Journal of Human Genetics, 2006

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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