Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. (2020)

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