Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.G520insFs
Back to variants list

F11

NM_000128.4:p.G520insFs

Associated Papers

Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency.

Harris VA et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2021

Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

Choi SJ et al.

Annals of Laboratory Medicine, 2014

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Kim J et al.

Clinical Genetics, 2012

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.

Kwon MJ et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2008

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.

Saunders RE et al.

Human Mutation, 2005

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."