Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.Q216*
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F9

NM_000133.4:p.Q216*

Associated Papers

F9 mutations causing deletions beyond the serine protease domain confer higher risk for inhibitor development in hemophilia B.

Liu G et al.

Blood, 2023

Factor IX inhibitors in haemophilia B: A report of National Haemophilia Registry in China.

Dou X et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

The CDC Hemophilia B mutation project mutation list: a new online resource.

Li T et al.

Molecular Genetics & Genomic Medicine, 2013

24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List

Somatic APC mosaicism: an underestimated cause of polyposis coli.

Hes FJ et al.

Gut, 2008

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Aretz S et al.

Human Mutation, 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."