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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant (2019)

First Author: Balaraju S

Attributed to: Disease mechanisms and therapy for inherited disorders of the neuromuscular synapse. 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

Parent Publication: European Journal of Human Genetics

Issue: 3

ISSN: 1018-4813