Associated Papers
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M et al.
Human Mutation, 2020
31595648 (PubMed )
Supplement: HUMU-41-299-s005.pdf
Select a paper to view details