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

Am J Med Genet A. 2023 Dec;191(12):2908-2912. doi: 10.1002/ajmg.a.63365. Epub 2023 Aug 7.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Sequence Analysis, DNA