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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
J Med Genet. 2016 Dec;53(12):820-827. doi: 10.1136/jmedgenet-2016-103880. Epub 2016 Jul 20.
J Med Genet. 2016.
PMID: 27439707
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