Varaico: Literature-Extracted Genetic Variants

Gene:F10
Variant:p.C390F
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F10

NM_000504.4:p.C390F

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

Analysis of 180 Genetic Variants in a New Interactive FX Variant Database Reveals Novel Insights into FX Deficiency.

Harris VA et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2021

Factor X Friuli Coagulation Disorder: Almost 50 Years Later.

Girolami A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway.

Hu Z et al.

Blood, 2017

A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain.

Vianello F et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2003

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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."