All Stories

  1. A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia
  2. De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy
  3. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome
  4. A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK
  5. A Novel Allosteric Mechanism on Protein–DNA Interactions underlying the Phosphorylation-Dependent Regulation of Ets1 Target Gene Expressions