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Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability

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1 Published in 2022 at "Neurology: Genetics"

DOI: 10.1212/nxg.0000000000200025

Abstract: Background and Objectives Clark-Baraitser syndrome is characterized by intellectual disability with or without autism spectrum disorders, speech delay, motor delay, behavioral abnormalities, and facial dysmorphism. It is caused by a heterozygous pathogenic variant in the… read more here.

Keywords: intellectual disability; frameshift; novel synonymous; gene ... See more keywords