Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.C533R
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TGFBR2

NM_003242.6:p.C533R

Associated Papers

Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2.

Heck R et al.

Interactive Cardiovascular and Thoracic Surgery, 2022

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5

A case of near total aortic replacement in an adolescent with loeys-dietz syndrome.

Suh YJ et al.

Korean Circulation Journal, 2012

Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.

Chen J et al.

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Mizuguchi T et al.

Journal of Human Genetics, 2007

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL et al.

The New England Journal of Medicine, 2006

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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."