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Q39033939-2D56320F-1BAA-4757-AE25-2C283E0F1426
Q39033939-2D56320F-1BAA-4757-AE25-2C283E0F1426
BestRank
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http://www.wikidata.org/entity/statement/Q39033939-2D56320F-1BAA-4757-AE25-2C283E0F1426
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
P2860
Q39033939-2D56320F-1BAA-4757-AE25-2C283E0F1426
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39033939-2D56320F-1BAA-4757-AE25-2C283E0F1426
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wasDerivedFrom
a37df23f45b56b2b59f52fa6cedcc577a54d4f0a
P2860
Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.