Article

CIC missense variants contribute to susceptibility for spina bifida

2021-11-30

Abstract excerpt

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 pre...

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Literature Corpus work: b3f9578d-d829-5b4d-94dc-7672773fbfcb
DOI: 10.22541/au.163826470.06627349/v1

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