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Article

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.

Journal of human genetics - 1 Jan 2011

Fedyna Alison, Drayna Dennis, Kang Changsoo

Abstract excerpt

Stuttering is a disorder that affects the fluency of speech. It has been shown to have high heritability and has recently been linked to mutations in the GNPTAB gene. One such mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual cases. Eight unrelated individual...

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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: 20944643
DOI: 10.1038/jhg.2010.125
PMCID: PMC3024470

Genes

GNPTAB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20944643-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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