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Q52137495-B5B610FE-04CA-4A43-BE4A-E757C67277C7
Q52137495-B5B610FE-04CA-4A43-BE4A-E757C67277C7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137495-B5B610FE-04CA-4A43-BE4A-E757C67277C7
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
P2860
Q52137495-B5B610FE-04CA-4A43-BE4A-E757C67277C7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52137495-B5B610FE-04CA-4A43-BE4A-E757C67277C7
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wasDerivedFrom
4b64f310852a5512153c7a2af7546655b567d95d
P2860
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.