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

doi:10.1038/s41598-018-27824-0

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Article

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

Scientific reports - 21 Jun 2018

Krgovic Danijela, Kokalj Vokac Nadja, Zagorac Andreja, Gregoric Kumperscak Hojka

Abstract excerpt

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 clinical significance (VOUS) and ambiguous CNVs can also be detected. An example of the last two are abnormalities in the...

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PMID: 29930340
DOI: 10.1038/s41598-018-27824-0
PMCID: PMC6013431

Genes

DOCK8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.