Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.W240*
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F9

NM_000133.4:p.W240*

Associated Papers

Factor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications.

Kihlberg K et al.

Thrombosis Research, 2022

The Molecular Basis of FIX Deficiency in Hemophilia B.

Shen G et al.

International Journal of Molecular Sciences, 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

Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.

Liu Z et al.

Haematologica, 2019

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.

Branchini A et al.

Blood, 2017

Hemophilia B: molecular pathogenesis and mutation analysis.

Goodeve AC

Journal of Thrombosis and Haemostasis : Jth, 2015

25851415 (PubMed )
Supplement: JTH-13-1184-s001.docx

Risk factors associated with inhibitor development in Chinese patients with haemophilia B.

Zhou J et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Radic CP et al.

Thrombosis and Haemostasis, 2013

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

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N et al.

American Journal of Human Genetics, 2000

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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."