Article

Duplications at 19q13.33 in patients with neurodevelopmental disorders

2017-04-25

Abstract excerpt

<h4>OBJECTIVE</h4> After recent publication of the first patients with disease associated missense variants in GRIN2D , we evaluate the effect of copy number variation (CNV) overlapping this gene towards the presentation of neurodevelopmental disorders. <h4>METHODS</h4> We explored ClinVar (N°CNV = 41,398) and DECIPHER (N°CNV = 30,222) clinical databases of genomic variations for patients with copy number chan...

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Literature Corpus work: f550534c-b611-54b3-af3f-89a38d0f2fab
DOI: 10.1101/130377

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