Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.R384L
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F9

NM_000133.4:p.R384L

Associated Papers

Humanization and functional characterization of enhanced coagulation factor IX variants identified through ancestral sequence reconstruction.

Coyle CW et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.

Chen F et al.

Thrombosis Research, 2023

CRISPR-Mediated In Situ Introduction or Integration of F9-Padua in Human iPSCs for Gene Therapy of Hemophilia B.

Tang Q et al.

International Journal of Molecular Sciences, 2023

"iPSC-derived liver organoids and inherited bleeding disorders: Potential and future perspectives".

Roman G et al.

Frontiers in Physiology, 2023

In vitro recovery of FIX clotting activity as a marker of highly functional hepatocytes in a hemophilia B iPSC model.

Luce E et al.

Hepatology (baltimore, Md.), 2022

Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity.

Lombardi S et al.

British Journal of Haematology, 2021

Recombinant Adeno-Associated Viral Vectors Expressing Human Coagulation FIX-E456H Variant in Hemophilia B Mice.

Le Quellec S et al.

Thrombosis and Haemostasis, 2019

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

Balestra D et al.

International Journal of Molecular Sciences, 2019

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.

Branchini A et al.

Blood, 2017

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