Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.N1941I
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F8

NM_000132.4:p.N1941I

Associated Papers

Comparing one stage, chromogenic assay results and discrepancies with bleeding phenotype and genetic variants in females with hemophilia A.

Srivaths L et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

Genetic causes of haemophilia in women and girls.

Miller CH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Haemophilia A mutations in the UK: results of screening one-third of the population.

Green PM et al.

British Journal of Haematology, 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."