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The molecular genetics of RASopathies : An update on novel disease genes and new disorders

16 Nov 2022

Abstract excerpt

Enhanced signaling through RAS and the mitogen-associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS-MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively controlling RAS function or favoring the efficient transmission of RAS...

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PMID: 36394128
DOI: 10.1002/ajmg.c.32012

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