Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2016L
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F8

NM_000132.4:p.R2016L

Associated Papers

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

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

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."