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Nan-Jie Xu

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Open access Sep 2026

TRAF7 mutations stabilize K/NRAS and hyperactivate MAPK signaling to cause CAFDADD neurodevelopmental defects

The MAPK-ERK1/2 pathway plays a crucial role in neurodevelopment during embryogenesis, and the hyperactivation of this signaling cascade serves as a pathological hallmark for various neurodevelopmental disorders. Germline variants in TRAF7, encoding a RING-type E3 ubiquitin ligase, are genetically associated with cardi...

Man Xiao, Yang Liu, Xiao-Zhen Song et al. · 0 citations

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