Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.I1698T
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F8

NM_000132.4:p.I1698T

Associated Papers

Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.

Nguyen BST et al.

Journal of Clinical Pathology, 2023

Genetics and Hemostatic Potential in Persons with Mild to Moderate Hemophilia A with a Discrepancy between One-Stage and Chromogenic FVIII Assays.

Strålfors A et al.

Thrombosis and Haemostasis, 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

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

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

Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.

Rosset C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

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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."