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Article

A comprehensive analysis of copy number variation in a Turkish dementia cohort.

Human genomics - 28 Jul 2021

Dehghani Nadia, Guven Gamze, Kun-Rodrigues Celia, Gouveia Catarina, Foster Kalina, Hanagasi Hasmet, Lohmann Ebba, Samanci Bedia, Gurvit Hakan, Bilgic Basar, Bras Jose, Guerreiro Rita

Abstract excerpt

BACKGROUND: Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and triplications of SNCA have been shown to cause forms of Parkinson's disease, while duplications of APP cause early onset Alzheimer's disease (AD). RESULTS: Here, we performed a systematic analysis...

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Identifiers

PMID: 34321086
DOI: 10.1186/s40246-021-00346-z
PMCID: PMC8317312

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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