Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.G214S
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TGFBR1

NM_004612.4:p.G214S

Associated Papers

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Genomic alterations accompanying tumour evolution in colorectal cancer: tracking the differences between primary tumours and synchronous liver metastases by whole-exome sequencing.

Mogensen MB et al.

Bmc Cancer, 2018

30029640 (PubMed )
Supplement: 12885_2018_4639_MOESM1_ESM.xlsx › Ark1

Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.

De Cario R et al.

Journal of Vascular Surgery, 2018

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Attanasio M et al.

Clinical Genetics, 2008

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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."