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Article

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

American journal of human genetics - 1 May 2008

Molinari Florence, Foulquier François, Tarpey Patrick S, Morelle Willy, Boissel Sarah, Teague Jon, Edkins Sarah, Futreal P Andrew, Stratton Michael R, Turner Gillian, Matthijs Gert, Gecz Jozef, Munnich Arnold, Colleaux Laurence

Abstract excerpt

Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been described so far. Here, we report on two genes invo...

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Source

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Identifiers

PMID: 18455129
DOI: 10.1016/j.ajhg.2008.03.021
PMCID: PMC2427205

Genes

TUSC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18455129-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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