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
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Stella A et al.
Genes, 2018
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
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