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bibliographicCitation Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N. Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. Journal of Human Genetics. 2021 Jan 29;66(7):697–705. doi: 10.1038/s10038-020-00893-8.
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title Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder
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