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Q55521682-433625AB-3C81-44D1-BECA-B8A42CD9C8DF
Q55521682-433625AB-3C81-44D1-BECA-B8A42CD9C8DF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55521682-433625AB-3C81-44D1-BECA-B8A42CD9C8DF
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
P2860
Q55521682-433625AB-3C81-44D1-BECA-B8A42CD9C8DF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55521682-433625AB-3C81-44D1-BECA-B8A42CD9C8DF
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wasDerivedFrom
5b6e53e9ee295b95b1d8f84898ac5fa1c937fbb2
P2860
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.