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Article

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.

Scientific reports - 21 Jun 2022

Hwang Ye Hyun, Hayward Bruce Eliot, Zafarullah Marwa, Kumar Jay, Durbin Johnson Blythe, Holmans Peter, Usdin Karen, Tassone Flora

Abstract excerpt

The fragile X mental retardation (FMR1) gene contains an expansion-prone CGG repeat within its 5' UTR. Alleles with 55-200 repeats are known as premutation (PM) alleles and confer risk for one or more of the FMR1 premutation (PM) disorders that include Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-associated Primary Ovarian Insufficiency (FXPOI), and Fragile X-Associated Neuropsychiatric...

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Identifiers

PMID: 35729184
DOI: 10.1038/s41598-022-14183-0
PMCID: PMC9213438

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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