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

First Author: Donkervoort S

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