Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.E312K
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TGFBR2

NM_003242.6:p.E312K

Associated Papers

Case report of Loeys-Dietz syndrome presenting with coronary artery aneurysm.

Nickol JL et al.

European Heart Journal. Case Reports, 2022

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ et al.

Bmc Genetics, 2014

24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Tran-Fadulu V et al.

Journal of Medical Genetics, 2009

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

Mizuguchi T et al.

Journal of Human Genetics, 2007

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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."