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Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.

Christopher Ronald FunkElizabeth S HueyMelanie M MayYunhui PengEkaterina MichonovaRobert G BestCharles E SchwartzAnna V Blenda
Published in: The Journal of international medical research (2021)
Keyphrases
  • case report
  • intellectual disability
  • protein protein
  • amino acid
  • binding protein
  • small molecule
  • autism spectrum disorder