Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2016G
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F8

NM_000132.4:p.R2016G

Associated Papers

Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.

Chen M et al.

International Journal of Molecular Sciences, 2025

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

Zhou X et al.

Frontiers in Genetics, 2025

De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.

Chen M et al.

International Journal of Molecular Sciences, 2024

A strategy for the molecular diagnosis in hemophilia a in Chinese population.

He Z et al.

Cell Biochemistry and Biophysics, 2013

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A.

Ma GC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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."