Publication
Title
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
Author
Abstract
Language
English
Source (journal)
European journal of human genetics / European Society of Human Genetics. - Leiden
Publication
Leiden : 2018
ISSN
1018-4813
Volume/pages
26:11(2018), p. 1623-1634
ISI
000447273900011
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Project info
VIB-Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS).
Solving the unsolved Rare Diseases (Solve-Rd).
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 09.11.2018
Last edited 13.12.2018
To cite this reference