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Paper Details

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
3
2021
ID, Mice, RNA, UBE4A, UBE4A enzyme, Ube4a, behavior disorder, clinical samples, developmental delay, global developmental delay, hypotonia, intellectual disability, intellectual disability syndrome, muscular and neurological/behavioral abnormalities, novel genes, patient, seizures, short stature, syndromic intellectual disability
Author NameAffiliation
Kent C LloydUniversity of California-Davis
Kent C LloydUniversity of California-Davis
Kent C LloydUniversity of California-Davis
Kent C LloydUniversity of California-Davis
Ala MoshiriUniversity of California Davis
Lynette BowerUniversity of California-Davis
Brian C LeonardUniversity of California-Davis
Matthew T WheelerStanford University School of Medicine
Matthew T WheelerStanford University School of Medicine
Jonathan A BernsteinStanford University School of Medicine
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Center
Fowzan S AlkurayaCollege of Medicine, Alfaisal University
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