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Article

A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes.

Human mutation - 1 Feb 2017

Zhang Chaolin, Shen Yufeng

Abstract excerpt

Recent studies have identified many genes with rare de novo mutations in autism, but a limited number of these have been conclusively established as disease-susceptibility genes due to the lack of recurrence and confounding background mutations. Such extreme genetic heterogeneity severely limits recurrence-based statistical power even in studies with a large sample size. Here, we use cell-type specific expression...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27860035
DOI: 10.1002/humu.23147
PMCID: PMC5865588

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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.

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