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Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.

Emily FarrowAllison M JayJohn MeansScott YoungerRebecca BiswellBoryana KosevaIsabelle ThiffaultTomi PastinenKara B PappasHelga Toriello
Published in: American journal of medical genetics. Part A (2023)
Keyphrases
  • single cell
  • single molecule
  • genome wide
  • replacement therapy
  • gene expression
  • dna methylation