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P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Elsevier, 2023.
    • الموضوع:
      2023
    • Collection:
      LCC:Genetics
      LCC:Medicine
    • File Description:
      electronic resource
    • ISSN:
      2949-7744
    • Relation:
      http://www.sciencedirect.com/science/article/pii/S2949774423005630; https://doaj.org/toc/2949-7744
    • الرقم المعرف:
      10.1016/j.gimo.2023.100563
    • الرقم المعرف:
      edsdoj.351ab484383e498d93fb967bf13b3585