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Elsevier, Journal of the Neurological Sciences, 1-2(318), p. 100-105, 2012

DOI: 10.1016/j.jns.2012.03.016

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Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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