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Defining RASopathy

The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline pathogenic variants in components of the RAS/mitogen-activated protein kinase (RAS/MAPK) pathway. In defining a RASopathy syndrome, one needs to consider the complex n...

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Detalles Bibliográficos
Autor principal: Rauen, Katherine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821523/
https://www.ncbi.nlm.nih.gov/pubmed/35103797
http://dx.doi.org/10.1242/dmm.049344