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Q52113860-698334AA-4D7F-4487-A23A-6D928B38F745
Q52113860-698334AA-4D7F-4487-A23A-6D928B38F745
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http://www.wikidata.org/entity/statement/Q52113860-698334AA-4D7F-4487-A23A-6D928B38F745
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
P2860
Q52113860-698334AA-4D7F-4487-A23A-6D928B38F745
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52113860-698334AA-4D7F-4487-A23A-6D928B38F745
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wasDerivedFrom
fdd234ddb5a6e813b4bd3a4210da7cb5748cf1e5
P2860
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.