CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance
Authors
AJ Hörlein
AR Paciorkowski
+32 more
C Pebrel-Richard
CA Albers
Christine Bole-Feysot
D Kraemer
DM McDonald-McGinn
G Castelo-Branco
G Ertaylan
Geneviève Baujat
HG Yoon
J Deursen van
J Knijnenburg
JCK Barber
K Jepsen
Karine Siquier-Pernet
Lam-Son Nguyen
Laurence Colleaux
M Lek
M Lindern von
Matthieu Egloff
MF Bedeschi
Michel Vekemans
N Wu
O Hermanson
Patrick Nitschke
R Hochstenbach
ST Lee
ST South
T Heinzel
Tania Attié-Bitach
Valérie Cormier-Daire
Valérie Malan
X Hu
Publication date
Publisher
'Springer Science and Business Media LLC'
Doi
Cite
Abstract
Abstract is not available.
Similar works
Full text
Available Versions
Crossref
See this paper in CORE
Go to the repository landing page
Download from data provider
info:doi/10.1038%2Fs41431-018-...
Last time updated on 04/12/2019