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-0002-FiguresS2S3TablesS1S3-S5.docx
Benchmarking long-read structural variant calling tools and combinations for detecting somatic variants in cancer genomes.
Aydin SK et al.
Scientific Reports, 2025
40082509 (PubMed )
Supplement: 41598_2025_92750_MOESM2_ESM.xlsx › Least2comb_H2009
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-TablesS1-S11.docx
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I et al.
Journal of Medical Genetics, 2019
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