Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.K45*
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F9

NM_000133.4:p.K45*

Associated Papers

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

Balestra D et al.

International Journal of Molecular Sciences, 2019

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

Ferrarese M et al.

Human Mutation, 2018

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
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