Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.F216S
Back to variants list

TGFBR1

NM_004612.4:p.F216S

Associated Papers

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.

Li J et al.

Science China. Life Sciences, 2019

Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Cammareri P et al.

Nature Communications, 2016

27558455 (PubMed )
Supplement: ncomms12493-s7.xlsx › Supplementary_data_table_6
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."