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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Magdaléna NeřoldováElżbieta CiaraJanka SlatinskáSona FrankovaPetra LiškováRadana KotalováJanka GlobinovskáMarketa SafarikovaLucie PfeiferováHana ZůnováLenka MrázováViktor StráneckýAlena VrbackáOndřej FabiánEva SticovaDaniela SkanderováJan ŠperlMarta KalousováTomáš ZimaMilan MacekJoanna PawlowskaA S KniselyStanislav KmochMilan Jirsa
Published in: PloS one (2023)
Our findings suggest association of IFT172 variants with non-syndromic cholestatic liver disease.
Keyphrases
  • copy number
  • liver injury
  • intellectual disability
  • drug induced
  • liver fibrosis
  • single cell
  • genome wide
  • autism spectrum disorder
  • dna methylation
  • gene expression