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Article

Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.

Annals of neurology - 1 Oct 2013

Kang Jing-Qiong, Shen Wangzhen, Macdonald Robert L

Abstract excerpt

OBJECTIVE: Genetic epilepsies and many other human genetic diseases display phenotypic heterogeneity, often for unknown reasons. Disease severity associated with nonsense mutations is dependent partially on mutation gene location and resulting efficiency of nonsense-mediated mRNA decay (NMD) to e...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23720301
DOI: 10.1002/ana.23947
PMCID: PMC3839255

Genes

GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23720301-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.PMID 23720301Read ↗

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