Varaico: Literature-Extracted Genetic Variants

Gene:TBX2
Variant:p.R305H
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TBX2

NM_005994.4:p.R305H

Associated Papers

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

Mäkitie RE et al.

Frontiers in Endocrinology, 2022

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

Harnish JM 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."