Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.R294L
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F9

NM_000133.4:p.R294L

Associated Papers

The Template-Jumping Editing Approach in F9-Associated Hemophilia B Gene Therapy.

Sattarov R et al.

International Journal of Molecular Sciences, 2025

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM3_ESM.xlsx › Sheet1

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT et al.

Clinical Genetics, 2019

30859559 (PubMed )
Supplement: CGE-95-693-s001.pdf

Mutation analysis of a cohort of US patients with hemophilia B.

Li T et al.

American Journal of Hematology, 2014

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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."