Associated Papers
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Bianchessi D et al.
Genes, 2020
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H et al.
The Keio Journal of Medicine, 2013
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H et al.
Human Mutation, 2012
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