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Article

De novo exon duplication in a new allele of mouse Glra1 (spasmodic).

Genetics - 1 Dec 2006

Holland Katherine D, Fleming Michelle T, Cheek Susannah, Moran Jennifer L, Beier David R, Meisler Miriam H

Abstract excerpt

The novel neurological mutant Cincinatti arose by genomic duplication of exon 5 in the glycine receptor gene Glra1. The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication eve...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17028313
DOI: 10.1534/genetics.106.065532
PMCID: PMC1698620

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17028313-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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