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- W3118471569 abstract "The advent of whole-exome sequencing ushered in a new era of in the genetic diagnosis of rare diseases, but characterizing large alterations in genome architecture has remained challenging. In this issue of Med, Frazier et al. harnessed the power of genomics and proteomics to identify a recurrent duplication as the molecular basis of a fatal perinatal mitochondrial cardiomyopathy.1." @default.
- W3118471569 created "2021-01-18" @default.
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- W3118471569 date "2021-01-01" @default.
- W3118471569 modified "2023-09-25" @default.
- W3118471569 title "Cutting the Gordian Knot of a Mitochondrial Disease" @default.
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- W3118471569 doi "https://doi.org/10.1016/j.medj.2020.12.015" @default.
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