Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.T322I
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F11

NM_000128.4:p.T322I

Associated Papers

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

Congenital factor XI deficiency and risk of heart failure in humans.

Lova A et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.

Salloum-Asfar S et al.

Thrombosis Research, 2018

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

Molecular characterization of FXI deficiency.

Berber E

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011

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."