Varaico: Literature-Extracted Genetic Variants

Gene:F10
Variant:p.R327W
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F10

NM_000504.4:p.R327W

Associated Papers

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Willems SPE et al.

Research and Practice in Thrombosis and Haemostasis, 2024

39076726 (PubMed )
Supplement: mmc2.xlsx › Blad1

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

Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing.

Pastoret C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

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

Diagnostic Single Gene Analyses Beyond Sanger.

Najm J et al.

Hamostaseologie, 2018

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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."