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/10.17863/cam.56433
Publication URI: https://www.repository.cam.ac.uk/handle/1810/309341
Type: Journal Article/Review