Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.H283R
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TGFBR1

NM_004612.4:p.H283R

Associated Papers

Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.

Pedroza AJ et al.

Jtcvs Open, 2025

Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Cammareri P et al.

Nature Communications, 2016

27558455 (PubMed )
Supplement: ncomms12493-s16.xlsx › Supplementary_Data_Table_14
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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."