Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.C533F
Back to variants list

TGFBR2

NM_003242.6:p.C533F

Associated Papers

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Camerota L et al.

Genes, 2019

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."