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Q39692293-FEB5B517-DC99-4CC1-A1BC-5A9A0E03CFCF
Q39692293-FEB5B517-DC99-4CC1-A1BC-5A9A0E03CFCF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39692293-FEB5B517-DC99-4CC1-A1BC-5A9A0E03CFCF
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
P2860
Q39692293-FEB5B517-DC99-4CC1-A1BC-5A9A0E03CFCF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39692293-FEB5B517-DC99-4CC1-A1BC-5A9A0E03CFCF
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
9ca87fff97fb92fefc438102e2990881780836e5
P2860
How to find and diagnose a CDG due to defective N-glycosylation.