Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.R153Splc
Back to variants list

TBX22

NM_001109878.2:p.R153Splc

Associated Papers

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Pauws E et al.

Clinical Genetics, 2013

TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly.

Kaewkhampa A et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2012

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

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

Braybrook C et al.

Nature Genetics, 2001

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."