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Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.

Tonje Talsnes StavaTrond P LerenMartin Prøven Bogsrud
Published in: European journal of preventive cardiology (2022)
Genetic testing provided a genetic basis of the cardiomyopathy in 13.1% of probands, and subsequent family testing identified almost three times as many variant-positive relatives which could be offered preventive follow-up.
Keyphrases
  • heart failure
  • quality improvement
  • genome wide
  • single molecule
  • gene expression
  • dna methylation