Associated Papers
Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.
Huang J et al.
Scientific Reports, 2025
40617948 (PubMed )
Supplement: 41598_2025_7318_MOESM1_ESM.xlsx › Final_Table
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
39492681 (PubMed )
Supplement: ART-77-582-s004.pdf
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F et al.
Genes, 2022
Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants.
Kluwe L et al.
American Journal of Medical Genetics. Part A, 2021
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Krkljus S et al.
Human Mutation, 1998
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