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Article

Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.

American journal of human genetics - 2 Nov 2023

Zhao Boxun, Nguyen Minh A, Woo Sijae, Kim Jinkuk, Yu Timothy W, Lee Eunjung Alice

Abstract excerpt

Certain classes of genetic variation still escape detection in clinical sequencing analysis. One such class is retroelement insertion, which has been reported as a cause of Mendelian diseases and may offer unique therapeutic implications. Here, we conducted retroelement profiling on whole-genome sequencing data from a cohort of 237 individuals with ataxia telangiectasia (A-T). We found 15 individuals carrying...

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Identifiers

PMID: 37802069
DOI: 10.1016/j.ajhg.2023.09.008
PMCID: PMC10645548

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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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