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Identification of a non-coding causative variant underlying Warsaw Breakage syndrome using long-read based genomic sequencing and transcriptome analysis

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  • Published on: September 12 2025
  • Source: American Journal of Medical Genetics
Authors: Makenna DuBois, Katherine Dixon, Charlotte Sherlaw-Sturrock, Yaoqing Shen, Frank Probst, Lorne Clarke, Dmitry Lyalin, Cheryl Shuman, Steven Jones, Cornelius Boerkoel, Grant S. Stewart, Phillip Richmond, Angela Myers

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