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AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense CPA1 variants from pancreatitis cases.

Máté SándorIsabelle ScheersAtsushi MasamuneHeiko WittJessica LaRuschJian-Min ChenBalázs Csaba NémethAndrea GeiszAliye UcMiklós Sahin-Tóth
Published in: Gut (2024)
Keyphrases
  • copy number
  • intellectual disability
  • gene expression
  • autism spectrum disorder
  • staphylococcus aureus
  • dna methylation
  • pseudomonas aeruginosa