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