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Q42924905-04425C63-3FBB-4D42-97D6-436AC63D1A56
Q42924905-04425C63-3FBB-4D42-97D6-436AC63D1A56
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Statement
http://www.wikidata.org/entity/statement/Q42924905-04425C63-3FBB-4D42-97D6-436AC63D1A56
Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis.
P2860
Q42924905-04425C63-3FBB-4D42-97D6-436AC63D1A56
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42924905-04425C63-3FBB-4D42-97D6-436AC63D1A56
rank
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type
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wasDerivedFrom
7648cda2aa1cff261605b1076d4bab8a7b5ab68f
P2860
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations