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Article

DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism.

PLoS genetics - 1 Mar 2014

Davis Jonathan M, Searles Veronica B, Anderson Nathan, Keeney Jonathon, Dumas Laura, Sikela James M

Abstract excerpt

One of the three most frequently documented copy number variations associated with autism spectrum disorder (ASD) is a 1q21.1 duplication that encompasses sequences encoding DUF1220 protein domains, the dosage of which we previously implicated in increased human brain size. Further, individuals with ASD frequently display accelerated brain growth and a larger brain size that is also associated with increased...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24651471
DOI: 10.1371/journal.pgen.1004241
PMCID: PMC3961203

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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