Varaico: Literature-Extracted Genetic Variants

Gene:TBX3
Variant:p.L143P
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TBX3

NM_005996.4:p.L143P

Associated Papers

TBX3- Related Disorder.

Halperin Z et al.

American Journal of Medical Genetics. Part A, 2026

Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.

Shi X et al.

Science Advances, 2022

The roles and regulation of TBX3 in development and disease.

Khan SF et al.

Gene, 2020

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.

Galazzi E et al.

Endocrine Connections, 2018

30550377 (PubMed )
Supplement: supplementary_table_3.pdf

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Coordinated control of senescence by lncRNA and a novel T-box3 co-repressor complex.

Kumar P P et al.

Elife, 2014

TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.

Kumar P P et al.

Plos Genetics, 2014

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

23298314 (PubMed )
Supplement: pr301007j_si_006.pdf

TBX3 and its splice variant TBX3 + exon 2a are functionally similar.

Hoogaars WM et al.

Pigment Cell & Melanoma Research, 2008

T-box genes in human disorders.

Packham EA et al.

Human Molecular Genetics, 2003

The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator.

Lingbeek ME et al.

The Journal of Biological Chemistry, 2002

Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.

Coll M et al.

Structure (london, England : 1993), 2002

TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.

Brummelkamp TR et al.

The Journal of Biological Chemistry, 2002

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

Bamshad M et al.

American Journal of Human Genetics, 1999

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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."