Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.V2144insFs
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F8

NM_000132.4:p.V2144insFs

Associated Papers

Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Dubois MD et al.

Research and Practice in Thrombosis and Haemostasis, 2022

A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

Dubois MD et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2020

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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."