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An extremely severe phenotype attributed to WDR81 nonsense mutations.

Gerarda CappuccioMichele PinelliAnnalaura TorellaGiuseppina VitielloAlessandra D'AmicoMarianna AlagiaEnnio Del GiudiceVincenzo Nigronull nullNicola Brunetti-Pierri
Published in: Annals of neurology (2019)
Keyphrases
  • early onset
  • drug induced