Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.R528S
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TGFBR2

NM_003242.6:p.R528S

Associated Papers

Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.

Butnariu LI et al.

International Journal of Molecular Sciences, 2024

Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders.

Felgentreff K et al.

Clinical Immunology (orlando, Fla.), 2014

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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."