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Comprehensive Genetic and Phenotype Analysis of 95 Individuals with Mosaic Tuberous Sclerosis Complex

Katarzyna Klonowska,Krinio Giannikou,Joannes M. Grevelink,Barbara Boeszoermenyi,Aaron R. Thorner,Zachary T. Herbert, Antara Afrin,Alison M. Treicnel,Lana Hamich,Katarzyna Kotulska,Sergiusz Jozwiak,Joel Moss,Thomas N. Darling,David J. Kwiatkowski

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

引用 14|浏览25
关键词
tuberous sclerosis complex,low-level mosaicism,TSC1,TSC2,massively parallel sequencing,variant detection,TSC angiofibroma,TSC angiomyolipoma
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