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

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 d...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238996/ https://www.ncbi.nlm.nih.gov/pubmed/34183725 http://dx.doi.org/10.1038/s41598-021-92834-4

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