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Q58193260-FBB42ECE-0FA8-4CD4-8B9E-CE3C86EF836D
Q58193260-FBB42ECE-0FA8-4CD4-8B9E-CE3C86EF836D
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Statement
http://www.wikidata.org/entity/statement/Q58193260-FBB42ECE-0FA8-4CD4-8B9E-CE3C86EF836D
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
P2860
Q58193260-FBB42ECE-0FA8-4CD4-8B9E-CE3C86EF836D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58193260-FBB42ECE-0FA8-4CD4-8B9E-CE3C86EF836D
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wasDerivedFrom
d27acaf33b2fe6a88c91406e313cbe4bb4be7b59
P2860
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms