Varaico: Literature-Extracted Genetic Variants

Gene:TBX2
Variant:p.R20Q
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TBX2

NM_005994.4:p.R20Q

Associated Papers

Thymic inborn errors of immunity.

Pala F et al.

The Journal of Allergy and Clinical Immunology, 2025

A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.

Mäkitie RE et al.

Frontiers in Endocrinology, 2022

Inborn errors of thymic stromal cell development and function.

Kreins AY et al.

Seminars in Immunopathology, 2021

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.

Harnish JM et al.

Journal of Visualized Experiments : Jove, 2019

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information.

Wang J et al.

Journal of Visualized Experiments : Jove, 2019

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Liu N et al.

Human Molecular Genetics, 2018

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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."