|
| 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
| |
| Pubmed ID |
|
|
|
29925855
| |
| Full text (Publisher's DOI) |
|
|
| | |
| Full text (publisher's version - intranet only) |
|
|
| | |
|
| 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
| |
|
|
|
| Identification |
|
| |
|
|
| Creation |
|
| |
09.11.2018
|
|
| Last edited |
|
| |
30.01.2021
|
|
| To cite this reference |
|
|
| | |
|
| |