Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R612H
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F8

NM_000132.4:p.R612H

Associated Papers

Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.

Morris O et al.

Genes, 2024

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

A case of moderate haemophilia A with inhibitor, carrying the p.R1800H mutation, complicated with juvenile idiopathic arthritis.

Kondo Y et al.

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

Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing.

Nahar R et al.

Nature Communications, 2018

29335443 (PubMed )
Supplement: 41467_2017_2584_MOESM3_ESM.xlsx › Pospileup
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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."