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A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K, Ruegg MSG, Fellows BJ, Cao J, Uhrig S, Einsele-Scholz S, Biskup S, Hawarden SRA, Salpietro V, Capra V; Undiagnosed Diseases Network; Brown CM, Accogli A, Shashi V, Bicknell LS. Schoch K, et al. Among authors: ruegg msg. Eur J Hum Genet. 2024 Jul;32(7):786-794. doi: 10.1038/s41431-024-01583-1. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467731 Free PMC article.