Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.C146*
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F11

NM_000128.4:p.C146*

Associated Papers

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

Pezeshkpoor B et al.

Hamostaseologie, 2025

The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.

Zhang K et al.

Orphanet Journal of Rare Diseases, 2024

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

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.

Esteban J et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

Guéguen P et al.

Thrombosis and Haemostasis, 2012

Liver transplantation for factor XI deficiency: cure before diagnosis.

Simpson E et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

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

Mitchell M et al.

Human Mutation, 2006

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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."