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    • Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.

View in: PubMed

subject areas
  • Adult
  • Animals
  • Cell Nucleus
  • Child
  • Child, Preschool
  • DNA-Binding Proteins
  • Family
  • Female
  • Gene Expression Regulation, Developmental
  • Humans
  • Intellectual Disability
  • Male
  • Mental Retardation, X-Linked
  • Mice
  • Mutation
  • Mutation, Missense
  • NIH 3T3 Cells
  • Pedigree
  • Phenotype
  • Protein Transport
  • RNA Splicing
  • RNA, Messenger
  • RNA, Small Nuclear
  • RNA-Binding Proteins
  • Spliceosomes
  • Syndrome
  • Zebrafish
  • Zebrafish Proteins

authors with profiles
  • Emil Georgiev Alexov