Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. (2020)
Attributed to:
Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1038/s41431-019-0506-2
PubMed Identifier: 31527857
Publication URI: http://europepmc.org/abstract/MED/31527857
Type: Journal Article/Review
Volume: 28
Parent Publication: European journal of human genetics : EJHG
Issue: 3
ISSN: 1018-4813