Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.K1290insFs
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F8

NM_000132.4:p.K1290insFs

Associated Papers

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Liu Y et al.

Thrombosis and Haemostasis, 2023

Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.

Nguyen BST et al.

Journal of Clinical Pathology, 2023

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Hu P et al.

Npj Genomic Medicine, 2022

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.

Nasirnejad Sola F et al.

Clinical Case Reports, 2020

Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.

Luu DV et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.

Janczar S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Spectrum of F8 gene mutations in haemophilia A patients from Slovenia.

Debeljak M et al.

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

First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.

Elmahmoudi H et al.

Diagnostic Pathology, 2012

Severe and moderate hemophilia A: identification of 38 new genetic alterations.

Casaña P et al.

Haematologica, 2008

The molecular aetiology of haemophilia A in a New Zealand patient group.

Laurie AD et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

Identification of seven novel mutations of F8C by DHPLC.

Frusconi S et al.

Human Mutation, 2002

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