Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.H415Q
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F9

NM_000133.4:p.H415Q

Associated Papers

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Katneni UK et al.

Molecular Genetics & Genomic Medicine, 2019

31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data

Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family.

Hua B et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

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