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Q37017526-1C4B3EA3-B812-4AD0-9656-EC2D0F4B5868
Q37017526-1C4B3EA3-B812-4AD0-9656-EC2D0F4B5868
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37017526-1C4B3EA3-B812-4AD0-9656-EC2D0F4B5868
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
P2860
Q37017526-1C4B3EA3-B812-4AD0-9656-EC2D0F4B5868
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37017526-1C4B3EA3-B812-4AD0-9656-EC2D0F4B5868
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Statement
wasDerivedFrom
b36ad04aab17829fc29eb0be0fe3a596f7604740
P2860
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.