Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.N283D
Back to variants list

F9

NM_000133.4:p.N283D

Associated Papers

"An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B": comment from Lee et al.

Lee K et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

"An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B": reply.

Branchini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

A Single Base Insertion in F9 Causing Hemophilia B in a Family of Newfoundland-Parti Standard Poodle Hybrid Dogs.

Kuder H et al.

Genes, 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

Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.

Hamasaki-Katagiri N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Molecular basis of inherited diseases: a structural perspective.

Steward RE et al.

Trends in Genetics : Tig, 2003

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."