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Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
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Breast (edinburgh, Scotland), 2025
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Supplement: mmc4.xlsx › Foglio1
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
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Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S1-All_samples
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
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Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.
Fu Y et al.
The Journal of Dermatology, 2018
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Messiaen LM et al.
Human Mutation, 2000
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