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Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders

Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the genetic cause of the disorder in more than 20%. These are mostly known microdeletion/microduplication syndromes, but variants of unknown clinica...

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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Krgovic, Danijela, Kokalj Vokac, Nadja, Zagorac, Andreja, Gregoric Kumperscak, Hojka
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6013431/
https://ncbi.nlm.nih.gov/pubmed/29930340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-27824-0
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