Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Q1386*
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F8

NM_000132.4:p.Q1386*

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

Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.

Testa MF et al.

Haematologica, 2023

35924581 (PubMed )
Supplement: 2022_281279_TESTA_SUPPL.pdf

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

Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.

Zahari M et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2018

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Santacroce R et al.

Journal of Human Genetics, 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."