Articles with "tcof1" as a keyword



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Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects

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Published in 2023 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2150

Abstract: Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1)… read more here.

Keywords: human neural; biogenesis; tube defects; tcof1 ... See more keywords