Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.C155Y
Back to variants list

F9

NM_000133.4:p.C155Y

Associated Papers

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.

Lannoy N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020

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 characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B.

Kim HJ et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2015

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."