Associated Papers
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Wang K et al.
Journal of Human Genetics, 2025
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
Sarantou S et al.
Molecular Biology Reports, 2024
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.
Yi Z et al.
Scientific Reports, 2017
28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf
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