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

ConclusionsThis study explored the functional impact of a missense variant inTCOF1, implicating a set of novel causative biological factors involved in the pathogenicity of human NTDs, particularly whom combined with craniofacial abnormality.

Source: Molecular Genetics & Genomic Medicine - February 21, 2023 Category: Genetics & Stem Cells Authors: Fang Wang, Haiqin Cheng, Qin Zhang, Jin Guo Tags: ORIGINAL ARTICLE Source Type: research