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Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant.

Ahmet Burak DirimTugba KalayciSeda SafakNurana GüllerOzgur Akin OtoAyse Serra ArtanSukru OzturkHalil Yazici
Published in: Nephrology (Carlton, Vic.) (2023)
Keyphrases
  • genome wide
  • copy number
  • replacement therapy
  • gene expression