Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.C145Y
Back to variants list

F9

NM_000133.4:p.C145Y

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

Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

Khan MTM et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.

Belvini D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

A genetic analysis of 23 Chinese patients with hemophilia B.

Wang QY et al.

Scientific Reports, 2016

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

Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers.

Khan MTM et al.

Pakistan Journal of Medical Sciences, 0

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."