Varaico: Literature-Extracted Genetic Variants

Gene:TBX22
Variant:p.E187K
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TBX22

NM_001109878.2:p.E187K

Associated Papers

Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Palsgrove DN et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

29973652 (PubMed )
Supplement: NIHMS972465-supplement-1.xlsx › CASE_3

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WH

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333

An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Preeprem T et al.

Biodata Mining, 2013

24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_5

TBX22 and tongue-tie.

Klockars T et al.

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

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

Kantaputra PN et al.

Journal of Dental Research, 2011

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

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."