Novel CIC variants identified in individuals with neurodevelopmental phenotypes
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DOI: 10.1002/humu.24346
Abstract: Heterozygous pathogenic variants in CIC, which encodes a transcriptional repressor, have been identified in individuals with neurodevelopmental phenotypes. To date, 11 CIC variants have been associated with the CIC‐related neurodevelopmental syndrome. Here, we describe three… read more here.
Keywords: cic; partial loss; cic variants; individuals neurodevelopmental ... See more keywords