Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.A1939Splc
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F8

NM_000132.4:p.A1939Splc

Associated Papers

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Andersson NG et al.

Human Mutation, 2020

Case Report: Development of Factor VIII Inhibitor in a Patient with an Uncommon de novo Mutation in the Factor VIII Gene.

Wyatt KD et al.

Acta Haematologica, 2019

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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."