Associated Papers
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis
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
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
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
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