Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. (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/10.1002/ajmg.a.61765
PubMed Identifier: 32776697
Publication URI: http://europepmc.org/abstract/MED/32776697
Type: Journal Article/Review
Volume: 182
Parent Publication: American journal of medical genetics. Part A
Issue: 10
ISSN: 1552-4825