Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.T1609insFs
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F8

NM_000132.4:p.T1609insFs

Associated Papers

Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.

Teng Y et al.

Thrombosis Research, 2025

Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.

Zuccherato LW et al.

Research and Practice in Thrombosis and Haemostasis, 2025

41169533 (PubMed )
Supplement: mmc1.pdf

Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.

Yang C et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

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

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.

Li F et al.

Frontiers in Genetics, 2023

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

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Spectrum and origin of mutations in sporadic cases of haemophilia A in China.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.

Pinto P et al.

Mutation Research, 2016

Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Nair PS et al.

Plos One, 2014

Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects.

Xue F et al.

European Journal of Haematology, 2010

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

Bogdanova N et al.

Human Mutation, 2002

[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].

Tokarev IuN et al.

Problemy Gematologii I Perelivaniia Krovi, 1977

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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."