Login / Signup

Fatal systemic disorder caused by biallelic variants in FARSA.

Soo Yeon KimSaebom KoHyunook KangMan Jin KimJangsup MoonByung Chan LimKi Joong KimMurim ChoiHee-Jung ChoiJong-Hee Chae
Published in: Orphanet journal of rare diseases (2022)
Our data demonstrated the pathogenicity of biallelic variants in FARSA and suggested the implication of hypomorphic variants in severe phenotypes.
Keyphrases
  • copy number
  • intellectual disability
  • electronic health record
  • early onset
  • big data
  • machine learning
  • dna methylation
  • escherichia coli
  • genome wide
  • cystic fibrosis
  • artificial intelligence
  • deep learning
  • data analysis