Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.E142K
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F9

NM_000133.4:p.E142K

Associated Papers

Compensatory epistasis explored by molecular dynamics simulations.

Serrano C et al.

Human Genetics, 2021

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

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM3_ESM.xlsx › Sheet1

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

Bastida JM et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
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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."