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Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease.

Chathri RatnayakeRocio RiusMathew J WallisRajesh RajJohn Christodoulou
Published in: Nephrology (Carlton, Vic.) (2022)
Keyphrases
  • oxidative stress
  • genome wide
  • copy number
  • gene expression