Associated Papers
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
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients.
Klein J et al.
Human Mutation, 2023
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