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Article

Systematic microsatellite repeat expansion cloning and validation.

Human genetics - 1 Oct 2020

Rohilla Kushal J, Ovington Katy N, Pater Adrian A, Barton Maria, Henke Anthony J, Gagnon Keith T

Abstract excerpt

Approximately 3% of the human genome is composed of short tandem repeat (STR) DNA sequence known as microsatellites, which can be found in both coding and non-coding regions. When associated with genic regions, expansion of microsatellite repeats beyond a critical threshold causes dozens of neurological repeat expansion disorders. To better understand the molecular pathology of repeat expansion disorders, precise...

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Identifiers

PMID: 32277284
DOI: 10.1007/s00439-020-02165-z
PMCID: PMC7487014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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