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A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

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Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of… Click to show full abstract

Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and neural systems.

Keywords: frameshift mutation; heterozygous frameshift; identified bcl11b; mutation identified; bcl11b causes; novo heterozygous

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019

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