Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.E1057K
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F8

NM_000132.4:p.E1057K

Associated Papers

Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.

Teng Y et al.

Thrombosis Research, 2025

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan.

Shinozawa K et al.

Thrombosis and Haemostasis, 2021

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

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

Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.

Luu DV et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Inaba H et al.

Research and Practice in Thrombosis and Haemostasis, 2017

Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.

Lyu C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Complexity and diversity of F8 genetic variations in the 1000 genomes.

Li JN et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.

Pahl S et al.

Thrombosis and Haemostasis, 2014

Profiling of factor VIII mutations in Korean haemophilia A.

Hwang SH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.

Djambas Khayat C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

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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."