Associated Papers
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A et al.
The Journal of Pathology, 2022
34846068 (PubMed )
Supplement: PATH-256-321-s001.zip › path5839-sup-TableS2.xlsx › Hoja1
Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
Thomas MH et al.
Journal of Genetic Counseling, 2019
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