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Paper Details

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
0
2023
GTSs, PP1, PPP1R3F, PPP1R3F knockout astrocytoma cells, PPP1R3F variants, Protein phosphatase 1 regulatory subunit 3F, X-linked disorder of glycogen metabolism, X-linked recessive neurodevelopmental disorder, astrocytoma, autism spectrum disorder, autistic features, brain astrocytes, cerebellar abnormalities, developmental delay, eukaryotic serine/threonine protein phosphatase, glucose, glycogen, intellectual disability, neurodevelopmental disorder, neurodevelopmental disorders, protein phosphatase 1, protein phosphatase 1 regulatory subunit 3F, seizures, serine, threonine, wild-type cells
Author NameAffiliation
Catherine A BrownsteinBoston Children's Hospital
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A BrownsteinBoston Children's Hospital
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Axel SchmidtInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre
Henry HouldenUniversity College London (UCL) Institute of Neurology
Jill A MaddenBoston Children's Hospital
Jill A MaddenThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalBoston Children's Hospital
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalUniversity of Miami School of Medicine and Jackson Health System
Jennifer E PoseyBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
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