Associated Papers
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Llinares-Burguet I et al.
The Journal of Pathology, 2026
41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0003-TableS6.xlsx › Table_S6.4
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
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