Genetics in Medicine Open (Jan 2024)

P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders

  • Kristina Macakova,
  • Jefferson Sinson,
  • Sen Zhao,
  • Hongzheng Dai,
  • Jill Rosenfeld,
  • Gladys Zapata,
  • Shenglan Li,
  • Patricia Ward,
  • Christiana Wang,
  • Chunjing Qu,
  • Becky Maywald,
  • Undiagnosed Disease Network,
  • Brendan Lee,
  • Christine Eng,
  • Pengfei Liu

Journal volume & issue
Vol. 2
p. 101654

Abstract

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