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...