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A."},{"key":"10.1016\/j.yexcr.2020.112300_bib126","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1159\/000147550","article-title":"Expression of casein kinase 2 during mouse embryogenesis","volume":"149","author":"Mestres","year":"1994","journal-title":"Acta Anat."},{"issue":"Suppl 1","key":"10.1016\/j.yexcr.2020.112300_bib127","doi-asserted-by":"crossref","first-page":"S79","DOI":"10.1016\/j.ydbio.2018.02.003","article-title":"MAPK and PI3K signaling: at the crossroads of neural crest development","volume":"444","author":"Dinsmore","year":"2018","journal-title":"Dev. Biol."},{"key":"10.1016\/j.yexcr.2020.112300_bib128","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.gde.2009.04.001","article-title":"The RASopathies: developmental syndromes of Ras\/MAPK pathway dysregulation","volume":"19","author":"Tidyman","year":"2009","journal-title":"Curr. Opin. Genet. 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