Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.G1818*
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F8

NM_000132.4:p.G1818*

Associated Papers

Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations.

Liu Z et al.

Journal of Thrombosis and Haemostasis : Jth, 2026

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

41169533 (PubMed )
Supplement: mmc1.pdf

Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.

Liu Z et al.

Haematologica, 2019

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.

Repessé Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Somatic mosaicism in hemophilia A: a fairly common event.

Leuer M et al.

American Journal of Human Genetics, 2001

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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."