Evans, D Gareth

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