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Paper Details

IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
55
2018
IRF2BP family, IRF2BPL, IRF2BPL nonsense variants, IRF2BPL ortholog, Interferon regulatory factor 2 binding protein-like, Mendelian disease, Sin3A, Ttk69, developmental delay, fruit-fly, humans, hypotonia, lack of coordination, missense variants, neurodegeneration, neurodevelopmental regression, neurological, neurological symptoms, neurons, nonsense alleles, pits, premature stop codon, progressive ataxia, seizures
Author NameAffiliation
Vandana ShashiDuke University School of Medicine
Rebecca C SpillmannDuke University School of Medicine
Mary Kay KoenigThe University of Texas Health Science Center at Houston
Henry J LinLos Angeles Biomedical Research Institute at Harbor-university of california los angeles Medical Center
Noriko SalamonDavid Geffen School of Medicine, University of California los angeles
Noriko SalamonDavid Geffen School of Medicine, University of California los angeles
Hyung-Lok ChungBaylor College of Medicine
Yaping YangBaylor College of Medicine
Shinya YamamotoBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Michael F WanglerBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Ghayda M MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute, University of Washington
Stanley F NelsonDavid Geffen School of Medicine, University of California los angeles
Stanley F NelsonDavid Geffen School of Medicine, University of California los angeles
David B GoldsteinInstitute for Genomic Medicine, Columbia University Medical Center
David B GoldsteinInstitute for Genomic Medicine, Columbia University Medical Center
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
Loren D M PenaDuke University School of Medicine
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