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A."},{"key":"10.1016\/j.jbc.2025.111100_bib69","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1534\/genetics.119.302938","article-title":"Tissue-specific DNA replication defects in Drosophila melanogaster caused by a Meier-Gorlin Syndrome Mutation in Orc4","volume":"214","author":"McDaniel","year":"2020","journal-title":"Genetics"},{"key":"10.1016\/j.jbc.2025.111100_bib70","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/nature10956","article-title":"The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome","volume":"484","author":"Kuo","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2025.111100_bib71","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1093\/hmg\/ddx305","article-title":"Zebrafish hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype","volume":"26","author":"Yao","year":"2017","journal-title":"Hum. Mol. 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Biochem."},{"key":"10.1016\/j.jbc.2025.111100_bib79","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jsb.2015.11.003","article-title":"Gctf: real-time CTF determination and correction","volume":"193","author":"Zhang","year":"2016","journal-title":"J. Struct. Biol."},{"key":"10.1016\/j.jbc.2025.111100_bib80","doi-asserted-by":"crossref","first-page":"4169","DOI":"10.1042\/BCJ20210708","article-title":"New tools for automated cryo-EM single-particle analysis in RELION-4.0","volume":"478","author":"Kimanius","year":"2021","journal-title":"Biochem. J."},{"key":"10.1016\/j.jbc.2025.111100_bib81","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.jsb.2005.07.007","article-title":"Automated electron microscope tomography using robust prediction of specimen movements","volume":"152","author":"Mastronarde","year":"2005","journal-title":"J. Struct. 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