Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S1688L
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F8

NM_000132.4:p.S1688L

Associated Papers

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s002.pdf

Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.

Pahl S et al.

Thrombosis and Haemostasis, 2014

Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Ogata K et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Santacroce R et al.

Journal of Human Genetics, 2008

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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."