Hui Li Kwong Yong-Kwang Tay Ene-Choo Tan
10.12688/f1000research.28052.2
F1000Res
2021 Feb 25;10:148.
mosaicism mutation neurofibromatosis 1 sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/34164111/
Neurofibromatosis 1 / genetics Neurofibromin 1 / genetics
Neurofibromatosis 1 / genetics Neurofibromin 1 / genetics Case Reports Research Support, Non-U.S. Gov't Adult Codon, Nonsense Genes, Neurofibromatosis 1 Humans Male Middle Aged Mosaicism Phenotype Codon, Nonsense Neurofibromin 1
PMC8215559
34164111
Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype
2021