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Paper Details

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Am J Med Genet A
0
2024
Author NameAffiliation
Aren E MarshallChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Kym M BoycottChildren's Hospital of Eastern Ontario
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Release 1.2