CORE
CO
nnecting
RE
positories
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
Research partnership
About
About
About us
Our mission
Team
Blog
FAQs
Contact us
Community governance
Governance
Advisory Board
Board of supporters
Research network
Innovations
Our research
Labs
research
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants
Authors
Altschul
Blanchard
+80 more
Bonnefond
Clark
Clark
Cline
Dalkilic
David N Cooper
de Ligt
De Rubeis
Denis
Depienne
Dinkel
Douville
Elkan
Epi4K Consortium and Epilepsy Phenome/Genome Project
Epilepsy Phenome/Genome Project and Epi4K Consortium EuroEPINOMICS-RES Consortium
Folkman
Fromer
Gilissen
Girard
Guan Ning Lin
Guipponi
Gulsuner
Hashimoto
Hsiao
Hu
Hyun-Jun Nam
Iossifov
Iossifov
Jain
Jain
Jiang
Jonathan Sebat
Karolchik
Kircher
Kong
Kymberleigh A Pagel
Landrum
Lek
Li
Lilia M Iakoucheva
MacArthur
MacArthur
Maquat
Matthew Mort
McCarthy
Menon
Mort
Mushegian
Neale
Ng
O’Roak
O’Roak
O’Roak
Pei
Pejaver
Peng
Predrag Radivojac
Radivojac
Radivojac
Ramachandrappa
Rauch
Rausell
Riedmiller
Risso
Ronemus
Rost
Sanders
Sean D Mooney
Sigrist
Stenson
Sulem
Suzek
Thousand Genomes Project Consortium
Turner
Vikas Pejaver
Xu
Xu
Yuen
Yuen
Zia
Publication date
12 July 2017
Publisher
'Oxford University Press (OUP)'
Doi
Abstract
Abstract is not available.
Similar works
Full text
Open in the Core reader
Download PDF
Available Versions
Supporting member
Online Research @ Cardiff
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:https://orca.cardiff.ac.uk...
Last time updated on 15/07/2021
Crossref
See this paper in CORE
Go to the repository landing page
Download from data provider
info:doi/10.1093%2Fbioinformat...
Last time updated on 01/04/2019