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Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.

Alexandre JaninEvan GouyAudrey PutouxThomas Perouse-de-MonclosPhilippe ChevalierAdèle FaucherreJourdano Mancilla AbaroaChris JoplingSophie Collardeau FrachonJelena RadojevicSalima El ChehadehGilles Millat
Published in: Circulation. Genomic and precision medicine (2023)
Keyphrases
  • copy number
  • intellectual disability
  • early onset
  • drug induced
  • gene expression