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Article

Saliva-Based Triple-Primed PCR as a Non-Invasive Tool for Detecting NOTCH2NLC GGC Repeat Expansions in NIID.

Clinical laboratory - 1 Jul 2026

Lian Yangye, Zhong Shaoping, Liang Jingzhen, Li Yuzhe, Chen Xing, Wang Xin, Ding Jing

Abstract excerpt

BACKGROUND: NOTCH2NLC-related neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by abnormal expansions of GGC repeats in the NOTCH2NLC gene. Traditional genetic testing relies on blood samples, which can be invasive. This study investigated the feasibility of using non-invasive saliva samples for detecting GGC repeat expansions in NIID patients. METHODS: Twenty-four NIID...

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Identifiers

PMID: 42411677
DOI: 10.7754/Clin.Lab.2025.250803

Genes

NOTCH2NLC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Saliva-Based Triple-Primed PCR as a Non-Invasive Tool for Detecting NOTCH2NLC GGC Repeat Expansions in NIID.PMID 42411677Read ↗

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