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

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,...

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Detalles Bibliográficos
Autores principales: Tartaglia, Marco, Aoki, Yoko, Gelb, Bruce D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10100036/
https://www.ncbi.nlm.nih.gov/pubmed/36394128
http://dx.doi.org/10.1002/ajmg.c.32012