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Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family.

Giovanna MorelloGiulia GentileRossella SpataroAntonio Gianmaria SpampinatoMaria GuarnacciaSalvatore SalomoneVincenzo La BellaFrancesca Luisa ConfortiSebastiano Cavallaro
Published in: Journal of personalized medicine (2020)
Overall, our work supports the utility to apply personal genomic information for characterizing complex disease phenotypes.
Keyphrases
  • amyotrophic lateral sclerosis
  • copy number
  • early onset
  • health information
  • gene expression