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On-board Preconcentration Microchip Capillary Electrophoresis Based TMT-PRM-LIVE for High-throughput Selectivity Profiling of Deubiquitinase Inhibitors
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-03-24 | MSV000089122 | MassIVE
We report 12 individuals from ten unrelated families with epilepsy, learning difficulties, intellectual disability, and neurobehavioral abnormalities, who segregated a microdeletion distally adjacent to the Williams-Beuren syndrome region. In six families, a recurrent ~ 1.1 Mb deletion likely result...
ORGANISM(S): Homo sapiens 
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