Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.P222delFs
Back to variants list

TBX22

NM_001109878.2:p.P222delFs

Associated Papers

Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.

Fu X et al.

Human Genetics, 2015

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.

Stanier P et al.

Human Molecular Genetics, 2004

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."