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Article

Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.

International journal of molecular sciences - 17 Feb 2024

Preisler Barbara, Pezeshkpoor Behnaz, Merzenich Anja, Ohlenforst Sandra, Rühl Heiko, Ivaškevičius Vytautas, Scholz Ute, Bönigk Hagen, Eberl Wolfgang, Zieger Barbara, Pavlova Anna, Oldenburg Johannes

Abstract excerpt

Congenital factor VII (FVII) deficiency is a rare genetic bleeding disorder characterized by deficient or reduced activity of coagulation FVII. It is caused by genetic variants in the F7 gene. We aimed to evaluate the rate of detection of pathogenic variants in the F7 gene in a large group of patients with FVII deficiency and investigate the correlations between the F7 genotype and FVII activity (FVII:C)....

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Identifiers

PMID: 38397060
DOI: 10.3390/ijms25042384
PMCID: PMC10889322

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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