Centre for Biomedical Network Research on Rare Diseases
Citations 2
Clinical spectrum of individuals with pathogenic
N
F1
missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
Human Mutation | July 14, 2015 | Volume: 36 | Issue: 11 | Pages: 1052-1063