Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report
Published online on March 16, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
Periodic reanalysis of genomic data plays a pivotal role in refining variant interpretation and resolving previously undiagnosed cases, particularly in the context of rare diseases. We report a female patient presenting with global developmental delay, ...
Periodic reanalysis of genomic data plays a pivotal role in refining variant interpretation and resolving previously undiagnosed cases, particularly in the context of rare diseases. We report a female patient presenting with global developmental delay, ...