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Author

Sarah Cunningham

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Open access Sep 2026

The Factor VII mutation F7 c.760T>C (FVIIp.Cys254Arg) is causative for Factor VII deficiency by impairing secretion.

BACKGROUND Hereditary Factor VII (FVII) deficiency is a bleeding disorder caused by mutations in the F7 gene, a diagnosis that is complicated by a weak genotype-phenotype correlation. However, accurate pathogenicity assessment of FVII variants is essential for effective clinical management. OBJECTIVES Here, we report...

Malte M. Bartylla, Sarah Cunningham, S. Achenbach et al. · 0 citations

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