Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.N2038S
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F8

NM_000132.4:p.N2038S

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

Development of Engineered-U1 snRNA Therapies: Current Status.

Gonçalves M et al.

International Journal of Molecular Sciences, 2023

Parapharyngeal hematoma following transesophageal echo in a patient with hemophilia A.

McKenna D et al.

Clinical Case Reports, 2023

Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.

Pshenichnikova O et al.

Genes, 2023

36833187 (PubMed )
Supplement: genes-14-00260-s001.zip › genes-2152400-supplementary.xlsx › S1

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.

Li F et al.

Frontiers in Genetics, 2023

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

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Donadon I et al.

Haematologica, 2018

Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.

Castaman G

Haematologica, 2018

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

Bastida JM et al.

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

Haemophilia A mutations in the UK: results of screening one-third of the population.

Green PM et al.

British Journal of Haematology, 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."