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Article

Functional impact of the human mobilome.

Current opinion in genetics & development - 1 Jun 2013

Babatz Timothy D, Burns Kathleen H

Abstract excerpt

The human genome is replete with interspersed repetitive sequences derived from the propagation of mobile DNA elements. Three families of human retrotransposons remain active today: LINE1, Alu, and SVA elements. Since 1988, de novo insertions at previously recognized disease loci have been shown to generate highly penetrant alleles in Mendelian disorders. Only recently has the extent of germline-transmitted...

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Identifiers

PMID: 23523050
DOI: 10.1016/j.gde.2013.02.007
PMCID: PMC3703464

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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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