Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.T141M
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F11

NM_000128.4:p.T141M

Associated Papers

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

Pezeshkpoor B et al.

Hamostaseologie, 2025

Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort.

Santacroce R et al.

International Journal of Molecular Sciences, 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

Molecular investigation of 41 patients affected by coagulation factor XI deficiency.

Rimoldi V et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations.

Castaman G et al.

Haematologica, 2008

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