The analyses of human MCPH1 DNA repair machinery and genetic variations

Causal mutations in the MCPH1 gene have been associated with disorders like microcephaly, and recently congenital hearing impairment. This study examined the MCPH1 DNA repair machinery and identified genetic variations of interest in gnomAD database to discuss the biological roles and effects of rar...

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Bibliographic Details
Main Author: Oluwole Oluwafemi G.
Format: Article
Language:English
Published: De Gruyter 2024-02-01
Series:Open Medicine
Subjects:
Online Access:https://doi.org/10.1515/med-2024-0917