Associated Papers
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.
Douben H et al.
Human Mutation, 2023
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
Upadhyaya M et al.
Human Mutation, 2006
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