Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.C64Y
Back to variants list

F9

NM_000133.4:p.C64Y

Associated Papers

Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression.

Zhang H et al.

Human Mutation, 2022

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

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

Molecular characterization of haemophilia B patients in southern Brazil.

Meireles MR et al.

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

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.

Mahajan A et al.

Human Mutation, 2007

Genetic analysis of the atrial natriuretic peptide gene in essential hypertension.

Kato N et al.

Clinical Science (london, England : 1979), 2000

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."