Varaico: Literature-Extracted Genetic Variants

Gene:TBX3
Variant:p.R619delFs
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TBX3

NM_005996.4:p.R619delFs

Associated Papers

TBX3- Related Disorder.

Halperin Z et al.

American Journal of Medical Genetics. Part A, 2026

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.

Bottillo I et al.

Journal of Cellular Physiology, 2024

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

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

Kumar P P et al.

Plos Genetics, 2014

A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome.

Carlson H et al.

Human Molecular Genetics, 2001

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."