Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.N2148S
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F8

NM_000132.4:p.N2148S

Associated Papers

F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.

Lim MY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Comparing one stage, chromogenic assay results and discrepancies with bleeding phenotype and genetic variants in females with hemophilia A.

Srivaths L et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used

Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.

Lannoy N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Bogdanova N et al.

Human Mutation, 2002

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Bogdanova N et al.

Human Mutation, 2001

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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."