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Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. (2018)

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/hmg/ddy277

PubMed Identifier: 30124836

Publication URI: http://europepmc.org/abstract/MED/30124836

Type: Journal Article/Review

Volume: 27

Parent Publication: Human molecular genetics

Issue: 21

ISSN: 0964-6906