Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.A109Splc
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F11

NM_000128.4:p.A109Splc

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

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

Prenatal diagnosis in rare bleeding disorders-An unresolved issue?

Tabibian S et al.

International Journal of Laboratory Hematology, 2018

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

Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.

Colakoglu S et al.

Blood Transfusion = Trasfusione Del Sangue, 2018

Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.

Tiscia GL et al.

Human Genome Variation, 2017

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."