A second hotspot for pathogenic exon-skipping variants in CDC45
CDC45基因中致病性外显子跳跃变异的第二个热点区域
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01583-1
Schoch, Kelly; Ruegg, Mischa S G; Fellows, Bridget J; Cao, Joseph; Uhrig, Sabine; Einsele-Scholz, Stephanie; Biskup, Saskia; Hawarden, Samuel R A; Salpietro, Vincenzo; Capra, Valeria; Brown, Chris M; Accogli, Andrea; Shashi, Vandana; Bicknell, Louise S