De novo and bi-allelic pathogenic variants in nars1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects

HIGHLIGHTS

• who: Andreea Manole from the Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC N BG, UK have published the paper: De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects, in the Journal: (JOURNAL)
• what: The authors report the clinical phenotypes associated with de novo dominant and bi-allelic, autosomal recessive mutations in NARS1 in 32 affected individuals from 21 families. The authors provide genetic proof for these mutations and analyze their impact through . . .
  

   

  

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