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Q51045627-0CDF0D87-2B3E-4F5A-A73A-001527276D90
Q51045627-0CDF0D87-2B3E-4F5A-A73A-001527276D90
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Statement
http://www.wikidata.org/entity/statement/Q51045627-0CDF0D87-2B3E-4F5A-A73A-001527276D90
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.
P2860
Q51045627-0CDF0D87-2B3E-4F5A-A73A-001527276D90
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51045627-0CDF0D87-2B3E-4F5A-A73A-001527276D90
rank
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type
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wasDerivedFrom
8bc4c51da85d837b6a194817588c964c35077336
P2860
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms