Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.W1961R
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F8

NM_000132.4:p.W1961R

Associated Papers

An intronic RNA element modulates Factor VIII exon-16 splicing.

Tse V et al.

Nucleic Acids Research, 2024

37962303 (PubMed )
Supplement: gkad1034_supplemental_files.zip › Supplemental_Table_1.xlsx › Sheet1

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

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

Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.

Rossetti LC et al.

Haematologica, 2007

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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."