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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| Format: | Journal article |
| Langue: | English |
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De Gruyter
2024
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