Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
作者： Marco Tartaglia , Bruce D. Gelb
DOI: 10.1111/J.1749-6632.2010.05790.X
关键词:
摘要: … the phenotypic spectrum associated with germline mutations … and a NS-like facial dysmorphism in some individuals. Some … activation, 169 although a target upstream of RAS has also …
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