A novel nonsense pathogenic ttn variant identified in a patient with severe dilated cardiomyopathy

HIGHLIGHTS

• who: Caterina Micolonghi and collaborators from the Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Italy have published the research work: A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy, in the Journal: (JOURNAL)
• what: DCM is a major cause of heart failure and has a genetic basis in 38-40% of cases.
• how: For variant identification the authors used a developed pipeline according to the Genome Analysis Toolkit (GATK) best practices for germline variant identification .
• future: Research is needed . . .
  

   

  

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