Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.H53Y
Back to variants list

F11

NM_000128.4:p.H53Y

Associated Papers

Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity.

Pezeshkpoor B et al.

Hamostaseologie, 2025

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.

de Mazancourt P et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

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."