Varaico: Literature-Extracted Genetic Variants

Gene:F10
Variant:p.C404R
Back to variants list

F10

NM_000504.4:p.C404R

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

Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death.

Krumb E et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition.

Ferrarese M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Factor X deficiency and intracranial bleeding: who is at risk?

Rauch R et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."