Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
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Title
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Authors
Keywords
WES, <em class=EmphasisTypeItalic >GFM2</em>, Mitochondrial translation, Developmental delay, Mitochondrial disease
Journal
NEUROGENETICS
Volume 18, Issue 4, Pages 227-235
Publisher
Springer Nature
Online
2017-10-26
DOI
10.1007/s10048-017-0526-4
References
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