Associated Papers
Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline NF1 Pathogenic Variants.
Harahsheh EY et al.
Annals of Internal Medicine. Clinical Cases, 2026
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW et al.
Human Mutation, 2022
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