Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.C178Y
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F9

NM_000133.4:p.C178Y

Associated Papers

Mutation of Factor IX Cys178 is intolerant and may cause severe hemophilia B.

Wang X et al.

Thrombosis Research, 2019

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

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

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Radic CP et al.

Thrombosis and Haemostasis, 2013

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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."