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Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.

Arnau LlauradoMargarida Gratacòs-ViñolaEulàlia Rovira-MorenoMarta Codina-SolàMaria SalvadóDaniel Sanchez-TejerinaJavier SotocaNúria RaguerElena Garcia-ArumiRaul Juntas-Morales
Published in: Muscle & nerve (2023)
Keyphrases
  • copy number
  • genome wide
  • minimally invasive
  • genome wide identification
  • dna methylation
  • gene expression