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Q40256605-E84598CC-EA92-4E1E-9F11-DF926CC3B619
Q40256605-E84598CC-EA92-4E1E-9F11-DF926CC3B619
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Statement
http://www.wikidata.org/entity/statement/Q40256605-E84598CC-EA92-4E1E-9F11-DF926CC3B619
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
P2860
Q40256605-E84598CC-EA92-4E1E-9F11-DF926CC3B619
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40256605-E84598CC-EA92-4E1E-9F11-DF926CC3B619
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wasDerivedFrom
52d0a3482a891b84f9cf734f3ae80c2fa5198678
P2860
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.