A novel gck large genomic rearrangement in a patient with mody-2 detected by clinical exome sequencing

HIGHLIGHTS

• who: Paola Concolino and colleagues from the Universitario AGemelli IRCCS, Rome, Italy Department of Basic Biotechnological Sciences, Intensivological and Perioperative Clinics, Catholic University have published the research: A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing, in the Journal: Genes 2022, 2104 of 10/Oct/2022
• what: The authors reported a novel LGRs involving the last three exons of the GCK gene identified in a woman affected by MODY2. During the last decades, NGS methodologies have become widely used for diagnostic and research purposes.
• how . . .
  

   

  

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