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Q28139361-F9290400-0E23-4777-AE69-48BE1161C5BC
Q28139361-F9290400-0E23-4777-AE69-48BE1161C5BC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28139361-F9290400-0E23-4777-AE69-48BE1161C5BC
Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
P2860
Q28139361-F9290400-0E23-4777-AE69-48BE1161C5BC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28139361-F9290400-0E23-4777-AE69-48BE1161C5BC
rank
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type
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Statement
wasDerivedFrom
e545154c5cd3b6a937a8c2955f38e9b162e4a392
P2860
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV