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Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome.

Nicole BuhlEva-Doreen PfisterJens BohneUlrich BaumannBjörn HartlebenBrigitte SchlegelbergerThomas IlligBritta SkawranAmelie Stalke
Published in: Clinical genetics (2022)
Keyphrases
  • case report