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Article

Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.

BMC medical genetics - 19 Aug 2014

Chen Xiaoli, Wang Jun, Mitchell Elyse, Guo Jin, Wang Liwen, Zhang Yu, Hodge Jennelle C, Shen Yiping

Abstract excerpt

BACKGROUND: Human endogenous retroviral (HERV) sequences are the remnants of ancient retroviral infection and comprise approximately 8% of the human genome. The high abundance and interspersed nature of homologous HERV sequences make them ideal substrates for genomic rearrangements. A role for HERV sequences in mediating human disease-associated rearrangement has been reported but is likely currently...

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Source

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Identifiers

PMID: 25135225
DOI: 10.1186/s12881-014-0090-9
PMCID: PMC4152767

Genes

EYA1
SULF1

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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