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Paper Details

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Mol Genet Metab
11
2019
Author NameAffiliation
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia
Alison G ComptonMurdoch Children's Research Institute, University of Melbourne
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia St Vincent's Clinical School, Australia Children's Cancer Institute
Beryl B CummingsBroad Institute of Harvard and Massachusetts Institute of Technology
David R ThorburnMurdoch Children's Research Institute, University of Melbourne
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
John ChristodoulouMurdoch Children's Research Institute, University of Melbourne
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