Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics 01 2020
- 53-59 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/s41436-019-0598-7 doi
Adult Female Gene Frequency Germ-Line Mutation High-Throughput Nucleotide Sequencing--methods Humans Incidence Male Middle Aged Mosaicism Mutation Rate Neurofibromatosis 2--genetics Neurofibromin 2--genetics Pedigree Polymorphism, Single Nucleotide Sequence Analysis, DNA Young Adult