In Silico identification of a common mobile element insertion in exon 4 of RP1
Abstract 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 a...
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Autores principales: | , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Nature Portfolio
2021
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Acceso en línea: | https://doaj.org/article/a0388748636643d7a5c4cff4f1d14478 |
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