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

Fang Wang,Haiqin Cheng,Qin Zhang,Jin Guo

Molecular genetics & genomic medicine（2023）

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摘要

This study explored the functional impact of a missense variant in TCOF1, implicating a set of novel causative biological factors involved in the pathogenicity of human NTDs, particularly whom combined with craniofacial abnormality.

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关键词

TCOF1 ,apoptosis,missense mutation,neural tube defects,ribosomal biogenesis

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