article_metadata: Hui Li Kwong Yong-Kwang Tay Ene-Choo Tan
article_metadata: 10.12688/f1000research.28052.2
article_metadata: F1000Res
article_metadata: 2021 Feb 25;10:148.
article_metadata: mosaicism mutation neurofibromatosis 1 sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34164111/
article_metadata: Neurofibromatosis 1 / genetics Neurofibromin 1 / genetics
article_metadata: 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
article_metadata: PMC8215559
article_metadata: 34164111
article_metadata: Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype
article_metadata: 2021