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Q38668420-213FDD5F-F198-42EF-AF46-F0D4F743DE65
Q38668420-213FDD5F-F198-42EF-AF46-F0D4F743DE65
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38668420-213FDD5F-F198-42EF-AF46-F0D4F743DE65
Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.
P2860
Q38668420-213FDD5F-F198-42EF-AF46-F0D4F743DE65
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38668420-213FDD5F-F198-42EF-AF46-F0D4F743DE65
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wasDerivedFrom
0f2d9492cd850da1c92db9556d967c1fdb5bc9f5
P2860
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.