Associated Papers
Insights for variant clinical interpretation based on a benchmark of 65 variant effect predictors.
Radjasandirane R et al.
Genomics, 2025
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
The molecular basis of β-thalassemia.
Thein SL
Cold Spring Harbor Perspectives in Medicine, 2013
Glanzmann thrombasthenia: an update.
Franchini M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia.
González-Manchón C et al.
Journal of Thrombosis and Haemostasis : Jth, 2003
Select a paper to view details