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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix, Loic; Jagline, Helene; Ivanova, Ekaterina L. et al.
2016In Nature Genetics, 48 (11), p. 1349-1358

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Nature Genet (2016) Broix.pdf

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