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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,...
Autores principales: | Tartaglia, Marco, Aoki, Yoko, Gelb, Bruce D. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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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 |
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