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Paper Details

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
21
2021
Drosophila, GDD, RAN binding domain, TNPO2, TNPO2 variants, Transportin, Transportin-2, dTnpo, developmental abnormalities, developmental defects, developmental delays, dysmorphic features, eye and wing deformities, fly dTnpo, global developmental delay, human, lethality, mature neurons, mutant alleles, neurodevelopmental abnormalities, neurologic deficits, neurological features, neurons, ophthalmologic abnormalities, proband, wild-type TNPO2
Author NameAffiliation
Heidi CopeDuke University Medical Center
An-Chi TienBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
David A KoolenDonders Institute for Brain, Radboud University Medical Center
Theresa A GrebePhoenix Children's Hospital, University of Arizona College of Medicine Phoenix
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Michael F WanglerBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Shinya YamamotoBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Hugo J BellenBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, USA Howard Hughes Medical Institute
Hugo J BellenBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, USA Howard Hughes Medical Institute
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