Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.E335_Y336del1
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TGFBR2

NM_003242.6:p.E335_Y336del1

Associated Papers

Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

Chida R et al.

Journal of Human Genetics, 2026

A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report.

Liu X et al.

Heliyon, 2025

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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."