Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent mutation.
作者信息
Ragoussis Vassilis, Pagnamenta Alistair T, Haines Rebecca L, Giacopuzzi Edoardo, McClatchey Martin A, Sampson Julian R, Suri Mohnish, Gardham Alice, Cobben Jan-Maarten, Osio Deborah, Fry Andrew E, Taylor Jenny C
机构信息
Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
NIHR Biomedical Research Centre, Oxford, UK.
出版信息
J Med Genet. 2022 Apr;59(4):366-369. doi: 10.1136/jmedgenet-2020-107528. Epub 2021 Feb 5.
Abstract
摘要
Zotero 插件