Abstract:Neural Tube Defects (NTDs) are congenital malformations resulting from
abnormal embryonic development of the brain, spine, or spinal column.
The genetic etiology of human NTDs remains poorly understood despite
intensive investigation. CIC, homolog of the Capicua transcription
repressor, has been reported to interact with ataxin-1 (ATXN1) and
participate in the pathogenesis of spinocerebellar ataxia type 1. Our
previous study demonstrated that CIC loss of function (LoF) variants
contributed to cerebral folate d… Show more
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