Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
MECP2 重复综合征中的结构变异等位基因异质性有助于了解临床严重程度和疾病表达的变化
期刊:Genome Medicine
影响因子:10.4
doi:10.1186/s13073-024-01411-7
Davut Pehlivan #, Jesse D Bengtsson #, Sameer S Bajikar #, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeld