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Article

Mutations in the TSGA14 gene in families with autism spectrum disorders.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2011

Korvatska O, Estes A, Munson J, Dawson G, Bekris L M, Kohen R, Yu C-E, Schellenberg G D, Raskind W H

Abstract excerpt

Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome-wide significance at D7S530 on 7q32. We searched a candidate imprinted region at this location for genetic variants in families with positive linkage scores. Using exon resequencing, we identified three rare potentially pathogenic variants...

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Share to Child Development Disorders, Pervasive
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21438139
DOI: 10.1002/ajmg.b.31162
PMCID: PMC3552624

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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