Associated Papers
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
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.
Stella A et al.
Human Mutation, 2022
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Anastasaki C et al.
Neurology. Genetics, 2017
28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Burnichon N et al.
Human Molecular Genetics, 2012
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