Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
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Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20.
Eur J Hum Genet. 2015.
PMID: 25138099
Free PMC article.