Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2178H
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F8

NM_000132.4:p.R2178H

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

Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.

Guillet B et al.

Thrombosis and Haemostasis, 2024

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

Prediction of hemophilia A severity using a small-input machine-learning framework.

Lopes TJS et al.

Npj Systems Biology and Applications, 2021

34035274 (PubMed )
Supplement: 41540_2021_183_MOESM3_ESM.xlsx › Predictions___Clinical_reports

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

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

Lannoy N et al.

Thrombosis Research, 2015

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

Detection of factor VIII gene mutations by high-resolution melting analysis.

Laurie AD et al.

Clinical Chemistry, 2007

Effects of 7 hemoglobin variants on the measurement of glycohemoglobin by 14 analytical methods.

Lee ST et al.

Clinical Chemistry, 2007

The molecular aetiology of haemophilia A in a New Zealand patient group.

Laurie AD et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

[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."