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Article

In Silico identification of a common mobile element insertion in exon 4 of RP1.

Scientific reports - 28 Jun 2021

Won Dongju, Hwang Joo-Yeon, Shim Yeeun, Byeon Suk Ho, Lee Junwon, Lee Christopher Seungkyu, Kim Min, Lim Hyun Taek, Choi Jong Rak, Lee Seung-Tae, Han Jinu

Abstract excerpt

Mobile element insertions (MEIs) typically exceed the read lengths of short-read sequencing technologies and are therefore frequently missed. Recently, a founder Alu insertion in exon 4 of RP1 has been detected in Japanese patients with macular dystrophy by PCR and gel electrophoresis. We aimed to develop a grep search program for the detection of the Alu insertion in exon 4 of RP1 using unprocessed short reads....

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Identifiers

PMID: 34183725
DOI: 10.1038/s41598-021-92834-4
PMCID: PMC8238996

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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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