Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2182C
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F8

NM_000132.4:p.R2182C

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

Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.

Zuccherato LW et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Liu Y et al.

Thrombosis and Haemostasis, 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

Genetic analysis of carrier status in female members of Japanese hemophilia families.

Shinozawa K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

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

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Atik T et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 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

Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.

Spena S et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Spectrum and origin of mutations in sporadic cases of haemophilia A in China.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Nair PS et al.

Plos One, 2014

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

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

Gouw SC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

21070499 (PubMed )
Supplement: supplement_1.doc

Somatic mosaicism in hemophilia A: a fairly common event.

Leuer M et al.

American Journal of Human Genetics, 2001

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.

Ivaskevicius V et al.

British Journal of Haematology, 2001

[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].

Tokarev IuN et al.

Problemy Gematologii I Perelivaniia Krovi, 1977

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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."