Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.G565R
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F8

NM_000132.4:p.G565R

Associated Papers

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_MOESM2_ESM.xlsx › Variants_used

Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.

Salloum-Asfar S et al.

Thrombosis Research, 2018

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.

Esteban J et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N.

Berber E et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006

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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."