Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.E519K
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TGFBR2

NM_003242.6:p.E519K

Associated Papers

Genotyping data of routinely processed matched primary/metastatic tumor samples.

Kotoula V et al.

Data in Brief, 2021

33365374 (PubMed )
Supplement: mmc1.xlsx › S3_variants

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s002.xlsx › TCGA-HNSC

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

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."