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Q34282844-1716FEC2-E8C4-465A-8F79-F1BCC8FF7E6E
Q34282844-1716FEC2-E8C4-465A-8F79-F1BCC8FF7E6E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34282844-1716FEC2-E8C4-465A-8F79-F1BCC8FF7E6E
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
P2860
Q34282844-1716FEC2-E8C4-465A-8F79-F1BCC8FF7E6E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34282844-1716FEC2-E8C4-465A-8F79-F1BCC8FF7E6E
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Statement
wasDerivedFrom
86985c3fb6e7702600115b01d350ad225118e4f7
P2860
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome