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Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

María Elena Rodríguez-GarcíaFrancisco Javier Cotrina-VinagreAlexandra N OlsonMaría Teresa Sánchez-CalvinAna Martínez de AragónRogelio Simón de Las HerasJonathan D DinmanBert B A de VriesMaria João Nabais SáPilar Quijada-FraileFrancisco Martínez-Azorín
Published in: Journal of human genetics (2023)
Keyphrases
  • early onset
  • congenital heart disease