Genetics in Medicine Open (Jan 2024)

P154: The second known case of CNP-related hypomyelinating leukodystrophy is diagnosed by RNA-seq and demonstrates an abnormal blood methylation profile*

  • Joseph Farris,
  • Jia Tan,
  • Emily Blake,
  • Nancy William,
  • Ralitza Gavrilova,
  • Eric Klee

Journal volume & issue
Vol. 2
p. 101051

Abstract

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