Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S554G
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F8

NM_000132.4:p.S554G

Associated Papers

F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.

Lim MY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Using dried blood spots for variant analysis for patients with haemophilia.

Amos LE et al.

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

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

A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding.

Candy V et al.

Blood Advances, 2018

[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].

Tokarev IuN et al.

Problemy Gematologii I Perelivaniia Krovi, 1977

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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."