Associated Papers
Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.
Bai L et al.
Artificial Cells, Nanomedicine, and Biotechnology, 2026
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Lee S et al.
Npj Genomic Medicine, 2025
41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf
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