Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S635Splc
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F8

NM_000132.4:p.S635Splc

Associated Papers

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.

Spena S et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Guo Z et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Characterisation and quantification of F8 transcripts of ten putative splice site mutations.

Liang Q et al.

Thrombosis and Haemostasis, 2015

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10

The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A.

Wang XF et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

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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."