Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.R326C
Back to variants list

F11

NM_000128.4:p.R326C

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

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

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

Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis.

Duncan EM et al.

Pathology, 2008

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Mitchell M et al.

Human Mutation, 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."