Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.G439S
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F8

NM_000132.4:p.G439S

Associated Papers

An intronic RNA element modulates Factor VIII exon-16 splicing.

Tse V et al.

Nucleic Acids Research, 2024

37962303 (PubMed )
Supplement: gkad1034_supplemental_files.zip › Supplemental_Table_1.xlsx › Sheet1

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

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.

Valikhani A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021

Prediction of hemophilia A severity using a small-input machine-learning framework.

Lopes TJS et al.

Npj Systems Biology and Applications, 2021

34035274 (PubMed )
Supplement: 41540_2021_183_MOESM3_ESM.xlsx › Predictions___Clinical_reports

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

A homozygous female hemophilia A.

Nair PS et al.

Indian Journal of Human Genetics, 2012

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

Lin SY et al.

Bmc Medical Genetics, 2008

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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."