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Article

Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene.

Neurogenetics - 1 Aug 2018

Afek A, Tagliafierro L, Glenn O C, Lukatsky D B, Gordan R, Chiba-Falek O

Abstract excerpt

Short structural variants-variants other than single nucleotide polymorphisms-are hypothesized to contribute to many complex diseases, possibly by modulating gene expression. However, the molecular mechanisms by which noncoding short structural variants exert their effects on gene regulation have not been discovered. Here, we study simple sequence repeats (SSRs), a common class of short structural variants....

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Source

Open in PubMed Open full text

Identifiers

PMID: 29730780
DOI: 10.1007/s10048-018-0546-8
PMCID: PMC6054541

Genes

SNCA
GATA2

Provenance

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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