Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
Llinares-Burguet I et al.
International Journal of Molecular Sciences, 2026
41596415 (PubMed )
Supplement: ijms-27-00765-s001.zip › Supplementary_Table_S1_Transcript_Annotation_HGVS.pdf
Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.
Meyer R et al.
Blood Cancer Journal, 2026
Characterization of New ATM Deletion Associated with Hereditary Breast Cancer.
Parenti S et al.
Genes, 2021
Select a paper to view details