Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.I390N
Back to variants list

F9

NM_000133.4:p.I390N

Associated Papers

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Branchini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Huang L et al.

Molecular Genetics & Genomic Medicine, 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-s001.xls › F9_exonic_point_s

A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.

Meireles MR et al.

Human Mutation, 2019

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."