Citations 12

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

10.1002/humu.23929 | PMID 31595648

Update from the 2013 international neurofibromatosis conference

American Journal of Medical Genetics Part A | September 24, 2014 | Volume: 164 | Issue: 12 | Pages: 2969-2978

10.1002/ajmg.a.36754 | PMID 25255738