Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.W1961R
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F8

NM_000132.4:p.W1961R

Associated Papers

Protein residue network analysis reveals fundamental properties of the human coagulation factor VIII.

Lopes TJS et al.

Scientific Reports, 2021

Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A.

Famà R et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

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

Single-tube tetradecaplex panel of highly polymorphic microsatellite markers < 1 Mb from F8 for simplified preimplantation genetic diagnosis of hemophilia A.

Zhao M et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

Gouw SC et al.

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

21070499 (PubMed )
Supplement: supplement_1.doc
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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."