Associated Papers
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S1-All_samples
Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.
Wang R et al.
Orphanet Journal of Rare Diseases, 2025
40462134 (PubMed )
Supplement: 13023_2025_3759_MOESM2_ESM.xlsx › Sheet1
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Calì F et al.
European Journal of Medical Genetics, 2017
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