Literature summary for 2.7.1.60 extracted from

Liu, N.; Wang, Z.K.; Wang, H.X.; Li, Y.; Niu, Z.H.; Yu, X.F.
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles (2015), NeuroReport, 26, 598-601.

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Protein Variants

Protein Variants	Comment	Organism
C13S	the mutation is associated with distal myopathy with rimmed vacuoles	Homo sapiens
G576R	the mutation is associated with distal myopathy with rimmed vacuoles	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y223	-	-

Synonyms

Synonyms	Comment	Organism
GNE	-	Homo sapiens
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	-	Homo sapiens

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Release 2023.1 (January 2023)