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Article

G-quadruplex structural variations in human genome associated with single-nucleotide variations and their impact on gene activity.

Proceedings of the National Academy of Sciences of the United States of America - 25 May 2021

Gong Jia-Yuan, Wen Cui-Jiao, Tang Ming-Liang, Duan Rui-Fang, Chen Juan-Nan, Zhang Jia-Yu, Zheng Ke-Wei, He Yi-de, Hao Yu-Hua, Yu Qun, Ren Su-Ping, Tan Zheng

Abstract excerpt

G-quadruplexes (G4s) formed by guanine-rich nucleic acids play a role in essential biological processes such as transcription and replication. Besides the >1.5 million putative G-4-forming sequences (PQSs), the human genome features >640 million single-nucleotide variations (SNVs), the most common type of genetic variation among people or populations. An SNV may alter a G4 structure when it falls within a PQS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34001600
DOI: 10.1073/pnas.2013230118
PMCID: PMC8166059

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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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